H. Yoo

C. Ki, H. Yoo, S. Cho, 2013, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.

Dong Hwan Lee, H. Yoo, W. Min, 2005, Clinica chimica acta; international journal of clinical chemistry.

Lowe syndrome: a single center's experience in Korea

H. Yoo, Gu-Hwan Kim, B. Lee, 2014, Korean journal of pediatrics.

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Journal of Genetic Medicine.

A Familial Case of Kallmann Syndrome due to KAL1 Gene Complete Deletion

H. Yoo, S. H. Lee, Gu-Hwan Kim, 2011 .

Focal hand dystonia in a patient with PANK2 mutation

H. Yoo, Jae-Hong Lee, S. Chung, 2008, Movement disorders : official journal of the Movement Disorder Society.

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

H. Yoo, Gu-Hwan Kim, B. Lee, 2022, Annals of pediatric endocrinology & metabolism.

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

C. Cheon, H. Yoo, Jeongmin Choi, 2022, Clinical and translational medicine.

The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease.

H. Yoo, Gu-Hwan Kim, B. Lee, 2013, Metallomics : integrated biometal science.

Proteomic analysis of the hepatic tissue of Long–Evans Cinnamon (LEC) rats according to the natural course of Wilson disease

H. Yoo, Jihun Kim, Gu-Hwan Kim, 2011, Proteomics.

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy

Jong Chun Park, C. Tei, H. Yoo, 2019, Journal of Korean medical science.

Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption

H. Yoo, Jin-Ho Choi, Yena Lee, 2020, Annals of pediatric endocrinology & metabolism.

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

R. Desnick, H. Yoo, A. Roberts, 1992, The Journal of clinical investigation.

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome

H. Yoo, Chung-Hoon Kim, B. Kang, 2015, Obstetrics & gynecology science.

Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings

P. Kim, H. Lee, Y. Chung, 2011, The Korean journal of hepatology.

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families

H. Yoo, D-H Lee, G. Kim, 1996, Journal of Inherited Metabolic Disease.

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3

P. Goodfellow, S. Tsai, R. Desnick, 2005, Human Genetics.

Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study

R. Eastell, S. Ralston, M. Brandi, 2022, Calcified Tissue International.

Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma

H. Yoo, Jin-Ho Choi, Yena Lee, 2021, Annals of pediatric endocrinology & metabolism.

Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report

H. Yoo, Jin-Ho Choi, G. Seo, 2018, Annals of pediatric endocrinology & metabolism.

Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene

H. Yoo, Gu-Hwan Kim, J. S. Lee, 2011 .

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review

H. Won, H. Yoo, Gu-Hwan Kim, 2014, Obstetrics & gynecology science.

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

C. Cheon, H. Yoo, Y. Kim, 2018, Journal of Genetic Medicine.

Turner syndrome with primary hyperparathyroidism

H. Yoo, B. Lee, Jin-Ho Choi, 2013, Annals of pediatric endocrinology & metabolism.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

J. Oliveira, C. Wanner, D. Warnock, 2020, Journal of Medical Genetics.

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Kyung-A Lee, J. Ko, C. Cheon, 2016, Annals of clinical and laboratory science.

A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism.

H. Yoo, Kun-Suk Kim, Gu-Hwan Kim, 2006, Fertility and sterility.

Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency

J. Ko, C. Cheon, H. Yoo, 2010, Hormone Research in Paediatrics.

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

Manesh R. Patel, J. Oliveira, C. Wanner, 2016, Journal of Medical Genetics.

Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

H. Kim, J. Noh, Y. Hyun, 2010, The Korean journal of internal medicine.

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Medicine.

Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Annals of pediatric endocrinology & metabolism.

First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia

H. Cheong, Hiroyuki Tanaka, K. Ozono, 2018, JBMR plus.

Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.

H. Yoo, Ju ng-Hyun Kim, Jung-young Park, 2008, Genetic testing.

A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene

J. Ko, H. Yoo, Gu-Hwan Kim, 2008 .

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey

Sang Hyun Park, Dong Hwan Lee, Dong-hwan Lee, 2017, Medicine.

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation

Jong-Min Song, J. Jang, H. Yoo, 2016, Journal of cardiovascular ultrasound.

A Case of Fabry Cardiomyopathy

C. Tei, H. Yoo, Woo-Shik Kim, 2009, Korean circulation journal.

Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease

J. Ko, H. Yoo, Gu-Hwan Kim, 2008, Journal of Korean medical science.

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

H. Yoo, O. Kim, B. Lee, 2014, Joint, bone, spine : revue du rhumatisme.

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

J. Ko, H. Yoo, Gu-Hwan Kim, 2018, BMC Medical Genetics.

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Annals of pediatric endocrinology & metabolism.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

H. Yoo, Changwon Keum, Jeongmin Choi, 2021, BMC medical genomics.

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

H. Yoo, Yong-Mahn Han, Yong-Seok Lee, 2020, Journal of Medical Genetics.

Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome

E. Yu, H. Yoo, J. Kim, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.

H. Yoo, Yonghee Lee, Gu-Hwan Kim, 2012, Gene.

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

H. Yoo, Gu-Hwan Kim, E. Seo, 2002, European Journal of Pediatrics.

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

H. Yoo, Gu-Hwan Kim, B. Lee, 2014, Metabolism: clinical and experimental.

Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Journal of clinical neurology.

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

H. Yoo, Woo-Shik Kim, D. Kang, 2010, Journal of Human Genetics.

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

H. Yoo, Ju-Young Lee, Gu-Hwan Kim, 2012, Korean journal of pediatrics.

Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome

J. Ko, H. Yoo, K. Bae, 2008 .

Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model

H. Yoon, Soyeon Ahn, Young-Hak Kim, 2021, Scientific Reports.

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

J. Tolar, A. Rolfs, H. Yoo, 2019, Journal of Medical Genetics.

Two cases of Fabry disease identified in brothers

Dong Hwan Lee, H. Yoo, Y. Hong, 2010 .

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

H. Yoo, Jung-young Park, Gu-Hwan Kim, 2007, Human mutation.

Sulfonylurea Therapy in Two Korean Patients with Insulin-treated Neonatal Diabetes due to Heterozygous Mutations of the KCNJ11 Gene Encoding Kir6.2

H. Yoo, Dae-Yeol Lee, Gu-Hwan Kim, 2007, Journal of Korean medical science.

A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease

Chang Seong Kim, E. Bae, S. Ma, 2012, Renal failure.

The Effects of a Genetic Counseling Educational Program on Hereditary Breast Cancer for Korean Healthcare Providers

S. Ahn, Sung-Won Kim, Sue-Kyung Park, 2013, Journal of breast cancer.

Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents.

Y. Woo, H. Yoo, C. Shin, 2012, Clinical biochemistry.

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs

H. Yoo, Yong-Mahn Han, B. Lee, 2021, Stem cell reports.

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

H. Yoo, B. Lee, H. Yoon, 2021, Orphanet Journal of Rare Diseases.

Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs

Jinju Han, H. Yoo, Yong-Mahn Han, 2022, International journal of molecular sciences.

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review

H. Nittono, H. Yoo, A. Kimura, 2018, Journal of Korean medical science.

Efficacy and Safety Evaluation of Human Growth Hormone Therapy in Patients with Idiopathic Short Stature in Korea - A Randomised Controlled Trial.

H. Yoo, K. Lee, J. Hwang, 2020, European endocrinology.

The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy

J. Ko, H. Yoo, M. Yum, 2009 .

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.

S. Park, H. Yoo, Gu-Hwan Kim, 2007, International journal of molecular medicine.

Clinical and genetic analyses of patients with lateralized overgrowth

H. Yoo, B. Lee, M. Yum, 2022, BMC Medical Genomics.

Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

H. Yoo, M. Bae, E. Seo, 2011 .

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Korean journal of pediatrics.

Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

J. Ko, H. Yoo, Gu-Hwan Kim, 2015 .

A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

H. Yoo, Gu-Hwan Kim, B. Lee, 2012 .

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

S. Park, W. Jhang, H. Yoo, 2013, Molecular genetics and metabolism.

Identification of the mechanism underlying a human chimera by SNP array analysis

H. Yoo, Kun-Suk Kim, B. Lee, 2012, American journal of medical genetics. Part A.

Substrate reduction therapy in three patients with Gaucher disease

H. Yoo, S. Kim, Gu-Hwan Kim, 2016 .

Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation

H. Yoo, Gu-Hwan Kim, Sung Yeon Ahn, 2015, Korean journal of pediatrics.

A Case of Deficiency of the Seventh Component of Complement with Recurrence of Meningococcal Meningitis and Septicemia

H. Yoo, T. Ko, Jong-Seung Lee, 2004 .

Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

H. Yoo, Gu-Hwan Kim, B. Lee, 2013 .

Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study

H. Yoo, C. Shin, Dae-Yeol Lee, 2018, Hormone Research in Paediatrics.

Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial

H. Kim, H. Yoo, D. Jin, 2017, Journal of Endocrinological Investigation.

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

H. Yoo, M. Yum, T. Ko, 2010, Journal of Korean medical science.

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

B. Han, H. Yoo, Yeon-Su Lee, 2012, Human Genetics.

A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1

H. Yoo, Shin-Hye Kim, M. Park, 2014 .

A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene

H. Yoo, Gu-Hwan Kim, B. Lee, 2011 .

Growth hormone therapy in patients with Noonan syndrome

H. Yoo, G. Seo, 2018, Annals of pediatric endocrinology & metabolism.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Pediatric neurology.

A Case of adrenocortical oncocytoma Presenting with Peripheral Precocious Puberty

H. Yoo, D. Y. No, B. Lee, 2012 .

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

H. Yoo, Gu-Hwan Kim, B. Lee, 2020, Orphanet Journal of Rare Diseases.

Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia

H. Yoo, G. Kim, G. Kim,, 1998, Journal of pediatric endocrinology & metabolism : JPEM.

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene

H. Yoo, S. Lee, K. Kim, 2010, Korean journal of pediatrics.

A Case of Campomelic Dysplasia without Sex Reversal

C. Yoon, H. Yoo, Gu-Hwan Kim, 2010, Journal of Korean medical science.

Clinical Analysis of Prenatal Cytogenetic Diagnoses: Four-year Experience at Asan Medical Center

H. Won, Ji-Young Lee, Sung-Hoon Kim, 2004 .

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

C. Cheon, H. Yoo, Gu-Hwan Kim, 2015, Clinical endocrinology.

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

H. Yoo, Gu-Hwan Kim, B. Lee, 2013, Korean journal of pediatrics.

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

J. Ko, C. Cheon, H. Yoo, 2009, European Journal of Pediatrics.

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.

K. H. Shin, H. Yoo, Jong-Keuk Lee, 2012, Ophthalmology.

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

C. Cheon, H. Yoo, D. Shin, 2017, BMC Medical Genetics.

Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Y. Sohn, H. Yoo, 2016 .

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

R. Desnick, H. Yoo, C. H. Chen, 1993, Genomics.

Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report

Y. Woo, H. Yoo, Gu-Hwan Kim, 2009, Journal of Korean medical science.

High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.

Ji Eun Lee, H. Yoo, C. Shin, 2011, European journal of endocrinology.

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

H. Yoo, Kun-Suk Kim, Jin-Ho Choi, 2019, Annals of pediatric endocrinology & metabolism.

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia

H. Yoo, Gu-Hwan Kim, B. Lee, 2011, European Journal of Pediatrics.

Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age

H. Yoo, 2021, Annals of pediatric endocrinology & metabolism.

Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

H. Yoo, Gu-Hwan Kim, J. Koh, 2013, Journal of Korean medical science.

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

H. Yoo, Gu-Hwan Kim, Sochung Chung, 2013, Annals of pediatric endocrinology & metabolism.

Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses

H. Yoo, Jin-Ho Choi, 2012 .

A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

J. Ko, Y. Sohn, H. Yoo, 2015, Journal of Korean medical science.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

C. Cheon, H. Yoo, S. Park, 2020, Annals of pediatric endocrinology & metabolism.

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

H. Yoo, Jin-Ho Choi, 2017, Korean journal of pediatrics.

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.

H. Yoo, I. Hwang, Gu-Hwan Kim, 2018, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2015, Annals of pediatric endocrinology & metabolism.

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2021, Clinica chimica acta; international journal of clinical chemistry.

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants

H. Yoo, Gu-Hwan Kim, B. Lee, 2019, Metabolic Brain Disease.

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Molecular medicine.

Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.

J. Ko, H. Yoo, H. Jin, 2012, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Identification of Novel Mutations of the DAX-1 Gene in Patients with X-Linked Adrenal Hypoplasia Congenita

H. Yoo, Jung-young Park, Gu-Hwan Kim, 2005, Hormone Research in Paediatrics.

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.

J. H. Kim, H. Yoo, C. Shin, 2011, Metabolism: clinical and experimental.

Molecular Analysis of the AR and SRD5A2 Genes in Patients with 46,XY Disorders of Sex Development

H. Yoo, Kun-Suk Kim, Gu-Hwan Kim, 2008, Journal of pediatric endocrinology & metabolism : JPEM.

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease

C. Cheon, H. Yoo, B. Lee, 2022, Medicine.

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

T. Kanekura, H. Yoo, A. Satomura, 2012, Molecular genetics and metabolism.

A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report.

C. Ki, E. Bae, S. Ma, 2020, Annals of palliative medicine.

Endocrine dysfunction after bone marrow transplantation during childhood and adolescence

H. Yoo, H. Jin, Jin-Ho Choi, 2010 .

Six cases of citrin deficiency in Korea.

Ju-Hyun Kim, T. Saheki, J. Ko, 2007, International journal of molecular medicine.

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

J. A. Arranz, M. Tuchman, V. Rubio, 2010, Journal of Human Genetics.

Low prevalence of classical galactosemia in Korean population

C. Cheon, H. Yoo, Gu-Hwan Kim, 2011, Journal of Human Genetics.

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene

H. Yoo, Ji Hye Kim, S. Oh, 2010, Korean journal of pediatrics.

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

H. Yoo, Gu-Hwan Kim, O. Kim, 2012 .

Clinical and Molecular Characterization of Korean Patients with Glycogen Storage Type 1b

H. Yoo, Gu-Hwan Kim, B. Lee, 2015 .

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2020, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Genetic variants in the HLA-G region are associated with Kawasaki disease.

Jong-Keuk Lee, Young Mi Hong, Mi-Jin Kang, 2008, Human immunology.

Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient

H. Yoo, Yong-Mahn Han, B. Lee, 2017, International journal of molecular sciences.

Endocrine dysfunctions in children with Williams-Beuren syndrome

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Annals of pediatric endocrinology & metabolism.

A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex

Y. Chung, H. Yoo, Tae-Hoon Eom, 2014, Neurological Sciences.

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.

H. Yoo, Jung-young Park, Youngho Kim, 2003, International journal of molecular medicine.

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Annals of pediatric endocrinology & metabolism.

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

J. Ko, H. Yoo, Gu-Hwan Kim, 2008, Journal of Human Genetics.

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

H. Yoo, E. Seo, Youngho Kim, 2006, International journal of molecular medicine.

Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.

H. Yoo, Jin-Ho Choi, Y. Kim, 2018, Endocrine journal.

Identification of a novel human Rad51 variant that promotes DNA strand exchange

Bok-Ryang Kim, R. Park, H. Yoo, 2008, Nucleic acids research.

Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

H. Yoo, Y. No, Gu-Hwan Kim, 2006, Mutation research.

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

H. Yoo, Gu-Hwan Kim, B. Lee, 2012, Gut and liver.

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Pediatric neurology.

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

H. Yoo, Gu-Hwan Kim, H. Kim, 2017 .

Pseudohypoparathyroidism type 1 b due to paternal uniparental disomy of chromosome 20 q : A case report

H. Yoo, Gu-Hwan Kim, H. Kim, 2017 .

A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

C. Cheon, H. Yoo, Y. Kim, 2014, Annals of laboratory medicine.

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

H. Yoo, B. Lee, J. Jang, 2019, Journal of Genetic Medicine.

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

H. Yoo, Changwon Keum, Gu-Hwan Kim, 2022, Molecular genetics & genomic medicine.

Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method

H. Yoo, Gu-Hwan Kim, B. Lee, 2010 .

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome

H. Yoo, Gu-Hwan Kim, J. Jeong, 2020, Journal of Human Genetics.

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism

H. Yoo, Gu-Hwan Kim, B. Lee, 2011, Clinical endocrinology.

Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.

H. Yoo, Jung-young Park, Gu-Hwan Kim, 2011, The Journal of clinical endocrinology and metabolism.

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth

J. Ko, H. Yoo, Gu-Hwan Kim, 2007, European Journal of Pediatrics.

Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report

Hyoung-Song Lee, C. Lim, M. Koong, 2007, Journal of Korean medical science.

Identification of a Novel Single Nucleotide Polymorphism of HADHA Gene at a Referred Primer-binding Site During Pre-diagnostic Tests for Preimplantation Genetic Diagnosis

Hyoung-Song Lee, C. Lim, M. Koong, 2006, Journal of Korean medical science.

Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Hormone Research in Paediatrics.

Continuous Renal Replacement Therapy in the Neonatal Intensive Care Unit: A Single-Center Study

H. Yoo, B. Lee, Joo Hoon Lee, 2014 .

Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency

H. Yoo, Jin-Ho Choi, J. Cho, 2014, Annals of pediatric endocrinology & metabolism.

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

E. Tizzano, H. Yoo, Kiejung Park, 2012, Neuromuscular Disorders.

High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis

H. Yoo, Gu-Hwan Kim, B. Lee, 2011, Journal of pediatric gastroenterology and nutrition.

Analysis of PRSS1 and SPINK1 Mutations in Korean Patients With Idiopathic and Familial Pancreatitis

Kwi-Sook Choi, H. Yoo, Myung-Hwan Kim, 2009, Pancreas.

Floppy Infant Syndrome: Clinical Analysis and Diagnostic Approaches (2008-2012)

H. Yoo, M. Yum, T. Ko, 2014 .

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations

S. Park, H. Yoo, Gu-Hwan Kim, 2013, Journal of clinical neurology.

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

H. Yoo, B. Lee, Jin-Ho Choi, 2017, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Thyroid dysfunctions of prematurity and their impacts on neurodevelopmental outcome1)

H. Yoo, B. Lee, Ki-Soo Kim, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization].

Young-Uk Cho, H. Yoo, Gu-Hwan Kim, 2009, The Korean journal of laboratory medicine.

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Molecular and Cellular Endocrinology.

A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age

H. Yoo, Jeesuk Yu, Young Seok Lee, 2004 .

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

H. Yoo, Y. Ra, Gu-Hwan Kim, 2017 .

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

H. Yoo, B. Lee, Y. Kim, 2019, Pediatric gastroenterology, hepatology & nutrition.

X-linked recessive myotubular myopathy with MTM1 mutations

H. Yoo, Gu-Hwan Kim, S. Nam, 2013, Korean journal of pediatrics.

Surgical Interventions and Clinical Outcomes of Patients with Trisomy 18: a Single Center Experience

H. Yoo, S. J. Park, B. Lee, 2020, Perinatology.

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2022, Endocrine connections.

Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2020, Sexual Development.

Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant

H. Yoo, Gu-Hwan Kim, B. Lee, 2013, Metabolic Brain Disease.

A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

H. Yoo, B. Lee, Y. Kim, 2012 .

A Case of 17q22 with Interstitial Deletion

H. Yoo, Gu-Hwan Kim, B. Lee, 2011 .

A Wedge-Shaped Anterior Hairline Extension Associated with a Tessier Number 10 Cleft

S. Chang, H. Yoo, C. Won, 2012, Annals of dermatology.

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.

R. Desnick, H. Yoo, K. Astrin, 1993, Journal of Korean medical science.

Abnormalities of Hypothalamic-Pituitary MR Imaging and Pituitary Function in Patients with Growth Hormone Deficiency

H. Yoo, Hun Kim, 1998 .

Identification of 15 loci influencing height in a Korean population

B. Han, Kyunga Kim, T. Park, 2010, Journal of Human Genetics.

The natural history and prognostic factors of Graves' disease in Korean children and adolescents

J. Ko, C. Cheon, H. Yoo, 2010 .

Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease

H. Yoo, H. Jin, Jin-Ho Choi, 2021, BMC Pediatrics.

Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia

H. Yoo, Gu-Hwan Kim, B. Lee, 2012 .

A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.

H. Yoo, Gu-Hwan Kim, B. Lee, 2013, Gene.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

R. Desnick, X. Schneider-Yin, E. Minder, 2010, Blood.

A case report

Jun Fan, H. Yoo, B. Lee, 2018 .

A multicenter, open-label, phase III study of Abcertin in Gaucher disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Medicine.

Clinical characteristics and treatment outcomes in Camurati–Engelmann disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Medicine.

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

H. Yoo, Gu-Hwan Kim, J. Koh, 2013, Annals of pediatric endocrinology & metabolism.

Development of SNP-based human identification system

Bok-Ghee Han, Jong-Keuk Lee, B. Han, 2010, International Journal of Legal Medicine.

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

J. Lee, H. Yoo, Gu-Hwan Kim, 2016, Korean journal of pediatrics.

A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-β Gene in a Korean Family with Generalized Thyroid Hormone Resistance

J. H. Park, H. Yoo, Ji Hye Kim, 2007, Journal of Korean medical science.

Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients

E. Yu, H. Yoo, S. Hong, 2019, Journal of pathology and translational medicine.

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Dong Hwan Lee, H. Yoo, S. Koo, 2005, Journal of Human Genetics.

Two novel missense mutations observed in nonketotic hyperglycinemia.

H. Yoo, B. Lee, Na Mi Lee, 2012, Pediatric Neurology.

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Y. Sohn, C. Cheon, H. Yoo, 2016, Molecular medicine.

Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors

H. Yoo, Jin-Ho Choi, H. Im, 2021, Frontiers in Endocrinology.

Three Novel Pathogenic Mutations in KATP Channel Genes and Somatic Imprinting Alterations of the 11p15 Region in Pancreatic Tissue in Patients with Congenital Hyperinsulinism

H. Yoo, C. Kim, Gu-Hwan Kim, 2015, Hormone Research in Paediatrics.

Identification and Characterization of Human Genes Targeted by Natural Selection

B. Oh, H. Yoo, I. Park, 2008 .

Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis–renal‐dysfunction–cholestasis syndrome

H. Yoo, Gu-Hwan Kim, Y. Park, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

H. Yoo, Y. Yoon, Gu-Hwan Kim, 2018, Journal of Genetic Medicine.

Two cases of citrullinaemia presenting with stroke

H. Yoo, H. Kim, J. Choi, 2006, Journal of Inherited Metabolic Disease.

Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia.

H. Yoo, Gu-Hwan Kim, B. Lee, 2010, Journal of pediatric gastroenterology and nutrition.

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

H. Yoo, M. Yum, T. Ko, 2016, Korean journal of pediatrics.

Clinical Characteristics and Molecular Analysis of PIT1, PROP1,LHX3, and HESX1 in Combined Pituitary Hormone Deficiency Patients with Abnormal Pituitary MR Imaging

H. Yoo, Gu-Hwan Kim, Sung-Su Kim, 2003, Hormone Research in Paediatrics.

A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs

H. Yoo, So Mi Kim, H. Kim, 2013 .

Efficacy and safety of the recombinant human growth hormone in short children born small for gestational age

S. Kim, H. Yoo, C. Shin, 2021, Medicine.

Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders

L. Dunkel, J. Wit, M. Savage, 2016, Hormone Research in Paediatrics.

Growth Hormone Deficiency Associated with Pituitary Stalk Interruption Syndrome

H. Yoo, 1998, Hormone Research in Paediatrics.

Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

J. Ko, Y. Sohn, H. Yoo, 2015, Journal of Korean medical science.

Long-term follow-up on Cushing disease patient after transsphenoidal surgery

H. Yoo, Jin-Ho Choi, J. Cho, 2014, Annals of pediatric endocrinology & metabolism.

Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate

S. Hong, H. Yoo, Gu-Hwan Kim, 2006, European Journal of Pediatrics.

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Pediatric gastroenterology, hepatology & nutrition.

Lowe syndrome: a single center's experience

H. Yoo, Gu-Hwan Kim, B. Lee, 2014 .

Reassessment of GH Status and GH Therapy in Adults with Childhood-onset GHD: Transitional Care from Adolescence to Adulthood

H. Yoo, Jin-Ho Choi, 2011 .

Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial

H. Yoo, C. Shin, J. Hwang, 2021, BMC Endocrine Disorders.

A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome

A. Stevens, P. Clayton, C. Deal, 2013, European journal of endocrinology.

Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS)

J. Ko, H. Yoo, Jung-young Park, 2009, Clinical endocrinology.

Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency.

H. Yoo, Y. Bae, Dae-Yeol Lee, 2013, European journal of endocrinology.

Identification of four novel mutations in five unrelated Korean families with Fabry disease

H. Yoo, M.-C. Lee, J-S Kim, 2000, Clinical genetics.

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, BMC Pediatrics.

The CCR5 (−2135C/T) Polymorphism may be Associated with the Development of Kawasaki Disease in Korean Children

Jong-Keuk Lee, Young Mi Hong, In Sook Park, 2008, Journal of Clinical Immunology.

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Annals of Pediatric Endocrinology & Metabolism.

[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

K. R. Jun, H. Yoo, H. Yoo, 2010, The Korean journal of laboratory medicine.

Clinical characterization of a Korean case with 3p25 deletion

H. Yoo, B. Lee, Jin-Ho Choi, 2014 .

A Case with Transient Hyperammonemia of Newborn

H. Yoo, Gu-Hwan Kim, B. Lee, 2010 .

Phenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings

H. Yoo, B. Lee, E. Seo, 2015, Annals of laboratory medicine.

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools

H. Yoo, M. Yum, T. Ko, 2012, Korean journal of pediatrics.

Lesch-nyhan syndrome, a disease that could be easily missed: case series

H. Yoo, E. J. Ko, I. Sung, 2018, International Physical Medicine & Rehabilitation Journal.

Clinical course and endocrinological characteristics of prolactinoma in children and adolescents

H. Yoo, B. Lee, Jin-Ho Choi, 2013, International Journal of Pediatric Endocrinology.

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene

J. Park, Ki-Up Lee, W. Lee, 2011 .

Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short‐term recombinant human growth hormone (rhGH) therapy

H. Yoo, C. Shin, Gu-Hwan Kim, 2013, Proteomics.

The IL-10 (-627 A/C) Promoter Polymorphism May Be Associated With Coronary Aneurysms and Low Serum Albumin in Korean Children With Kawasaki Disease

Jong-Keuk Lee, Young Mi Hong, In Sook Park, 2007, Pediatric Research.

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

O. Yoo, H. Yoo, S. Hahn, 1998, Human mutation.

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis

H. Yoo, C. Kim, Gu-Hwan Kim, 2014, Brain and Development.

Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria

J. Ko, H. Yoo, Jae‐Min Kim, 2008 .

Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty

H. Yoo, Jin-Ho Choi, Eungu Kang, 2016, Annals of pediatric endocrinology & metabolism.

Biochemical and molecular characteristics of citrin deficiency in Korean children

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Journal of Human Genetics.

An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation

H. Yoo, Gu-Hwan Kim, B. Lee, 2013 .

Six novel mutations of the fibrillin‐1 gene in Korean patients with Marfan syndrome

H. Yoo, T. Kohsaka, D. Jin, 2000, Pediatrics international : official journal of the Japan Pediatric Society.

Identification of extremely rare mitochondrial disorders by whole exome sequencing

H. Yoo, C. Kim, Y. Lim, 2019, Journal of Human Genetics.

A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

H. Yoo, Gu-Hwan Kim, B. Lee, 2014 .

Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective

H. Yoo, 2020, Journal of lipid and atherosclerosis.

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.

H. Yoo, S. Chung, M. Yum, 2008, Pediatric neurology.

Insulin pump therapy in transient neonatal diabetes mellitus

H. Yoo, Eun-Gyong Yoo, Dae-Yeol Lee, 2013, Annals of pediatric endocrinology & metabolism.

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

J. Ko, C. Cheon, H. Yoo, 2015, Journal of Human Genetics.

Association of a c.1084A>G (p.Thr362Ala)Variant in the DCTN4 Gene with Wilson Disease

H. Yoo, J. Kim, Jae-Jung Kim, 2011 .

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes

H. Yoo, Eun-Gyong Yoo, Gu-Hwan Kim, 2018, Hormone Research in Paediatrics.

Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)

H. Yoo, Gu-Hwan Kim, H. Jin, 2010 .

Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

J. Ko, S. Hong, H. Yoo, 2008, Journal of Korean medical science.

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

R. Eastell, J. S. San Martin, S. Ralston, 2019, Calcified Tissue International.

Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

J. Ko, H. Yoo, Gu-Hwan Kim, 2007 .

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease

H. Yoo, Jung-young Park, Gu-Hwan Kim, 2009, Proteomics. Clinical applications.

Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years

H. Yoo, J. Jeon, I. Sung, 2020, Medicine.

Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency

Jae Hyun Kim, H. Yoo, C. Shin, 2022, Endocrinology and metabolism.

Implications of slow waves and shifting epileptiform discharges in Angelman syndrome

H. Yoo, M. Yum, T. Ko, 2013, Brain and Development.

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

J. Ko, Y. Sohn, C. Cheon, 2020, Orphanet Journal of Rare Diseases.

The definition of neuronopathic Gaucher disease

D. Arkadir, R. Schiffmann, J. Szer, 2020, Journal of inherited metabolic disease.

Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Pediatric gastroenterology, hepatology & nutrition.

SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro

Y. Nam, Jun Sung Park, H. Yoo, 2020, Stem Cell Research & Therapy.

Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro

Y. Nam, Jun Sung Park, H. Yoo, 2020, Stem Cell Research & Therapy.

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells

H. Yoo, Yong-Mahn Han, B. Lee, 2015, Stem Cell Research & Therapy.

Short-term Efficacy of Monthly Pamidronate Infusion in Patients with Osteogenesis Imperfecta

H. Yoo, Jin-Ho Choi, Y. Shin, 2007, Journal of Korean medical science.

Comparison of Clinical, Radiological and Molecular Findings in Korean Infants and Children with Achondroplasia and Hypochondroplasia

H. Yoo, Y. Shin, J.-H. Choi, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

KMD: Korean mutation database for genes related to diseases

Jong-Won Kim, H. Cheong, Hyun-Young Park, 2012, Human mutation.

The Case of Accelerated Linear Growth Despite Growth Hormone and Insulin-like Growth Factor-I Deficiency

J. Jung, J. Hahm, Soo Kyoung Kim, 2009 .

A case of Mowat?Wilson syndrome with developmental delays and Hirschsprung’s disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2014 .

Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry

C. Cheon, H. Yoo, Gu-Hwan Kim, 2012 .

Argininemia presenting with progressive spastic diplegia.

H. Yoo, Gu-Hwan Kim, B. Lee, 2011, Pediatric neurology.

Clinical and genetic features of four patients with Pearson syndrome

H. Yoo, H. Jin, J. Bae, 2022, Medicine.

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

H. Yoo, P. Su, Y. Imanishi, 2023, JBMR plus.

A familial case with brachydactyly type C with a GDF5 mutation

H. Yoo, Gu-Hwan Kim, B. Lee, 2014 .

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

C. Cheon, H. Yoo, Gu-Hwan Kim, 2015, Metabolic Brain Disease.

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2014, Journal of Human Genetics.

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis

C. Cheon, H. Yoo, Y. Lee, 2014, Gut.

A Case of Korean Patient with Nonketotic Hyperglycinemia; Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy

H. Yoo, J. H. Lee, T. Ko, 2000 .

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

Jun Suk Kim, H. Yoo, Gu-Hwan Kim, 2016, Korean journal of pediatrics.

Development of orphan drugs for rare disease.

H. Yoo, 2023, Clinical and experimental pediatrics.

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Journal of Korean medical science.

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2021, BMC Pediatrics.

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation

H. Yoo, Myoung-Chong Lee, Gu-Hwan Kim, 2008, Movement disorders : official journal of the Movement Disorder Society.

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation

H. Yoo, Gu-Hwan Kim, B. Lee, 2013, Korean journal of pediatrics.

Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.

R. Hopkin, W. Wilcox, H. Yoo, 2022, Molecular genetics and metabolism.

Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease.

H. Yoo, Gu-Hwan Kim, B. Lee, 2012, Molecular genetics and metabolism.

Clinical correlations of peripheral blood microchimerism after liver transplantation.

H. Yoo, S. Lee, J. J. Seo, 2000, Journal of Korean medical science.

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome

H. Yoo, Gu-Hwan Kim, J. Jeong, 2020, Journal of Human Genetics.

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

J. Ko, C. Cheon, H. Yoo, 2010, Pediatric neurology.

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

H. Yoo, Gu-Hwan Kim, H. Jin, 2011, Korean journal of pediatrics.

Fabry disease: current treatment and future perspective

H. Yoo, 2023, Journal of Genetic Medicine.

Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.

Woochang Lee, H. Yoo, J. Byeon, 2010, Cancer genetics and cytogenetics.

Liver Transplantation for Metabolic Liver Disease: Experience at a Living Donor Dominant Liver Transplantation Center

Jun Suk Kim, H. Yoo, Sung‐Gyu Lee, 2015, Pediatric gastroenterology, hepatology & nutrition.

Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors

H. Yoo, Y. Ra, Jin-Ho Choi, 2018, Journal of Neuro-Oncology.

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Y. Park, H. Yoo, M. Yum, 2011, Journal of Korean medical science.

Genetic Analysis of TGFA, MTHFR, and IFR6 in Korean Patients Affected by Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P)

H. Yoo, Jung-young Park, Youngho Kim, 2007 .

Modeling of Menkes disease via human induced pluripotent stem cells.

D. Helfman, H. Yoo, Yong-Mahn Han, 2014, Biochemical and biophysical research communications.

Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.

H. Yoo, C. Kim, Gu-Hwan Kim, 2015, Journal of pediatric gastroenterology and nutrition.

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

H. Yoo, B. Lee, Jin-Ho Choi, 2022, JIMD reports.

An Observational Study

H. Yoo, H. Jin, J. Bae, 2022 .

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2023, Annals of pediatric endocrinology & metabolism.

Contents Vol. 77, 2012

F. Kronenberg, V. Tillmann, T. Stijnen, 2012, Hormone Research in Paediatrics.

Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial

H. Yoo, K. Lee, J. Hwang, 2018, Hormone Research in Paediatrics.

Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report.

S. Oh, H. Yoo, T. Kim, 2012, Transplantation Proceedings.

Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report

Hyoung-Song Lee, C. Lim, M. Koong, 2007, Journal of Korean medical science.

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

C. Cheon, H. Yoo, Gu-Hwan Kim, 2014, Yonsei medical journal.

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia

H. Yoo, B. Lee, Jin-Ho Choi, 2017, Annals of Pediatric Endocrinology & Metabolism.

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

C. Cheon, H. Yoo, J. Yoon, 2018, Korean journal of pediatrics.

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

H. Yoo, Young-Hwa Song, Gu-Hwan Kim, 2012, Journal Genetika.

A Case of Glutaric Aciduria Type 1

H. Yoo, J. Song, C. Kim, 2002 .

Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

H. Yoo, Gu-Hwan Kim, B. Lee, 2017 .

Identification of extremely rare mitochondrial disorders by whole exome sequencing

H. Yoo, C. Kim, Y. Lim, 2019, Journal of Human Genetics.

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations

H. Yoo, Gu-Hwan Kim, B. Lee, 2011, Journal of Human Genetics.

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2023, Annals of pediatric endocrinology & metabolism.

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents

H. Yoo, Gu-Hwan Kim, Jin-Ho Choi, 2023, Experimental and Clinical Endocrinology & Diabetes.

- 1-Two Cases of Familial Cerebral Cavernous Malformation Caused by Mutations in the CCM 1 Gene

H. Yoo, M. Yum, T. Ko, 2022 .

Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation

H. Yoo, Y. Kim, H. Lee, 2018, Medicine.

A Case of Lesch-Nyhan Syndrome

J. S. Lee, Y. Woo, H. Yoo, 2003 .

A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis

Hyun-Seung Jin, H. Yoo, Jin-Ho Choi, 2004 .

A case series

H. Yoo, Gu-Hwan Kim, B. Lee, 2018 .

Evaluation of Efficacy of GnRH Agonist on Predicted Adult Height (PAH) in Patients with Central Precocious Puberty Using Two Different Dosages

H. Yoo, H. Jin, Jin-Ho Choi, 2010 .