Gu-Hwan Kim

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.

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.

Six cases of citrin deficiency in Korea.

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

Low prevalence of classical galactosemia in Korean population

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

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.

Endocrine dysfunctions in children with Williams-Beuren syndrome

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

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.

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 .

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 .

Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Gu-Hwan Kim, B. Lee, E. Seo, 2018 .

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.

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.

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.

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

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

[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.

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

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

X-linked recessive myotubular myopathy with MTM1 mutations

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

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia

Changwon Keum, Jeongmin Choi, Gu-Hwan Kim, 2020, Medicine.

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 of 17q22 with Interstitial Deletion

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

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

C. Kim, H. Yoo, Gu-Hwan Kim, 2018, Clinica chimica acta; international journal of clinical chemistry.

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.

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.

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.

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.

Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Gu-Hwan Kim, B. Lee, S. Lim, 2020, Laboratory Medicine Online.

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.

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.

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.

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.

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.

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.

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.

E. Yu, Gu-Hwan Kim, D. Kim, 2009, Gut and liver.

Lowe syndrome: a single center's experience

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

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.

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.

A Case with Transient Hyperammonemia of Newborn

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

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.

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.

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 .

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 .

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.

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.

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.

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.

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

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

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.

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.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

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

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.

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.

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

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

Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate

Gu-Hwan Kim, Yun-Jung Lim, M. Chung, 2015 .

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

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

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.

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

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

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.

Response to comment on “Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up”

E. Chae, J. Song, Gu-Hwan Kim, 2020, The Korean Journal of Internal Medicine.

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.

A Case of Lesch-Nyhan Syndrome

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

A case series

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

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Gu-Hwan Kim, Jin-Ho Choi, JinYoung Yoon, 2024, Annals of pediatric endocrinology & metabolism.

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.

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Yonsei medical journal.

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

Gu-Hwan Kim, S. J. Chung, Han-Wook Yoo, 2008, Movement disorders : official journal of the Movement Disorder Society.

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency

H. Yoo, Gu-Hwan Kim, B. Lee, 2015, Journal of Human Genetics.