D. Jin

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

The Association Between Left Ventricular Hypertrophy and Biomarkers in Patients on Continuous Ambulatory Peritoneal Dialysis

D. Jin, Sae-Yong Hong, Seung-Jin Lee, 2009, Korean circulation journal.

Effect of hormone replacement therapy on nitric oxide bioactivity and monocyte chemoattractant protein-1 levels.

K. Koh, E. Shin, D. Jin, 2001, International journal of cardiology.

Genetic basis of Prader–Willi syndrome in Korea: less uniparental disomy than has been recognized?

C. Ki, H. Kim, S.‐H. Kim, 2004, Clinical genetics.

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

D. Jin, 2012, Korean journal of pediatrics.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

J. Y. Kim, S. Y. Kim, Sung Im Cho, 2015, European journal of medical genetics.

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2013, Annals of laboratory medicine.

Acute myocardial infarction caused by a floating thrombus in the proximal ascending aorta

D. Jin, Seung-Jin Lee, W. Shin, 2015, The Korean journal of internal medicine.

Recombinant Human Growth Hormone Therapy in Infants with Chronic Renal Failure

D. Jin, K. Jeon, P. Oh, 1998, Hormone Research in Paediatrics.

Marked Suppression of Ghrelin Concentration by Insulin in Prader-Willi Syndrome

Moon-Kyu Lee, Y. Choe, J. Lee, 2007, Journal of Korean medical science.

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations

D. Jin, C. Han, S. Song, 2003, Human mutation.

Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.

Y. Sohn, Y. Yook, E. Jeon, 2014, Molecular genetics and metabolism.

Downregulation of Wnt-Mediated ROS generation is causally implicated in leprechaunism

Soo Young Lee, H. Kuehn, J. W. Park, 2010, Molecules and cells.

Probable Left Atrial Myxoma Presenting as Concurrent Cerebral and Myocardial Infarctions

D. Jin, Seung-Jin Lee, W. Shin, 2008 .

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Y. Sohn, S. Kim, Seng H. Cheng, 2016, Molecular genetics and metabolism.

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

M. Ruggieri, S. Marino, R. Falsaperla, 2019, Italian Journal of Pediatrics.

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

T. Y. Jeon, Jinsup Kim, D. Jin, 2018, Annals of pediatric endocrinology & metabolism.

Immediate and Long Term Outcome of Single Long Stent for Long Complex Coronary Artery Stenosis Compared to Multiple Conventional Stent

E. Shin, S. Oh, T. Ahn, 1998 .

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

R. Hennekam, H. Tonoki, R. Hennekam, 2010, Journal of Medical Genetics.

Primary headache in childhood associated with psychiatric disturbances: an update.

U. Raucci, S. Marino, R. Falsaperla, 2020, European review for medical and pharmacological sciences.

Clinical Experience of Cutting Balloon Angioplasty for in Stent Restenosis

K. Koh, E. Shin, T. Ahn, 2002 .

A Case of Congenital Insensitivity to Pain with Anhidrosis

Munhyang Lee, Y. Suh, D. Jin, 1997 .

Recurrent Hypokalemic Muscle Weakness as an Initial Manifestation of Wilson’s Disease

H. Cheong, T. Kohsaka, I. Ha, 1996 .

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

T. Okuyama, M. Kosuga, Y. Fukuhara, 2018, Clinical dysmorphology.

Cyclic Pamidronate Treatment in Two Korean Boys with Osteogenesis Imperfecta Type I Caused by COL1A1 Mutations

Ji-Hyun Kong, D. Jin, S. Cho, 2017 .

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

M. Ruggieri, Naira M Mustafa, R. Falsaperla, 2022, Italian Journal of Pediatrics.

Alternating Hemiplegia of Childhood, neurological comorbidities, intrafamilial variability: case-reports and literature review.

M. Ruggieri, Naira M Mustafa, R. Falsaperla, 2021 .

Alternating Hemiplegia of Childhood and Neurological Comorbidities. Variable Intrafamilial Clinical Features.

M. Ruggieri, Naira M Mustafa, R. Falsaperla, 2020 .

List of key features Abnormalities of the metaphyses , epiphyses , and vertebral bodies Disproportionate short stature

T. Okuyama, M. Kosuga, Y. Fukuhara, 2018 .

Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy

C. Ki, S. Kim, June-Dong Park, 2012, Journal of child neurology.

Etiological trends in male central precocious puberty

Jinsup Kim, D. Jin, A. Yang, 2018, Annals of pediatric endocrinology & metabolism.

Takotsubo Cardiomyopathy Associated with Severe Hypocalcemia Secondary to Idiopathic Hypoparathyroidism

D. Jin, Seung-Jin Lee, Sang-Ho Park, 2013, Korean circulation journal.

Three-year patient-related and stent-related outcomes of second-generation everolimus-eluting Xience V stents versus zotarolimus-eluting resolute stents in real-world practice (from the Multicenter Prospective EXCELLENT and RESOLUTE-Korea Registries).

J. Kang, Y. Jang, J. Bae, 2014, The American journal of cardiology.

CYTOKINE EXPRESSION IN THE RENAL TUBULAR EPITHELIAL CELLS STIMULATED BY SHIGA TOXIN 2 OF ESCHERICHIA COLI O157:H7

T. Kohsaka, J. Lee, M. Tagawa, 2002, Renal failure.

A Comparative Analysis of Two Biolimus-Eluting Biodegradable Stents: Evaluation of the Equivalence of 6 Months Versus 12 Months of DAPT Following Biolimus-Eluting Stent Implantation in Acute Coronary Syndrome (EQUUS)

Seung Wook Lee, M. Yoon, H. Choi, 2022, Journal of Cardiovascular Intervention.

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse

Jinwook Seo, Y. Shin, D. Jin, 2018, Pharmaceutics.

Evaluation of the urinary globotriaosylceramide (Gb3) assay by tandem mass spectrometry

Soo-Youn Lee, H. Park, D. Jin, 2010, Molecular & Cellular Toxicology.

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

I. Kang, Jinsup Kim, H. Park, 2018, Korean journal of pediatrics.

Efficacy and Safety of Dual-Drug-Eluting Stents for de Novo Coronary Lesions in South Korea—The Effect Trial

J. Bae, T. Ahn, S. U. Lee, 2020, Journal of clinical medicine.

Human Leukocyte Antigens in Childhood Idiopathic Nephrotic Syndrome

T. Kohsaka, N. Kobayashi, J. Abe, 1991, Acta paediatrica Japonica : Overseas edition.

Cilostazol-based triple versus potent P2Y12 inhibitor-based dual antiplatelet therapy in patients with acute myocardial infarction undergoing percutaneous coronary intervention

J. Cho, M. Jeong, Y. Ahn, 2020, Heart and Vessels.

Effects and adverse-effects of growth hormone therapy in children with Prader-Willi syndrome: A two year study

S. Kim, D. Jin, K. Paik, 2008 .

Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis

Eun-Gyong Yoo, Hyojung Park, D. Jin, 2021, Annals of pediatric endocrinology & metabolism.

The Effect of Growth Hormone on mRNA Expression of the GABA B1 Receptor Subunit and GH/IGF Axis Genes in a Mouse Model of Prader-Willi Syndrome

J. Y. Lee, D. Jin, Jin Young Lee, 2015 .

The Effect of Growth Hormone on mRNA Expression of the GABAB 1 Receptor Subunit and GH / IGF Axis Genes in a Mouse Model of Prader-Willi Syndrome

J. Y. Lee, D. Jin, Jin Young Lee, 2015 .

Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

C. Ahn, U. Kim, J. Chae, 2000, Mutation research.

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.

Hyojung Park, D. Jin, Ja-Hyun Jang, 2021, Neuro endocrinology letters.

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

S. Kim, D. Jin, C. Kim, 2010, Molecules and cells.

The proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea

C. Ki, Y. Sohn, S. Kim, 2013, Journal of Human Genetics.

A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome

Jong-Won Kim, Y. Sohn, J. Kwon, 2011, American journal of medical genetics. Part A.

Delayed Response of Amylin Levels after an Oral Glucose Challenge in Children with Prader-Willi Syndrome

Y. Sohn, S. Kim, Hae Jeong Lee, 2011, Yonsei medical journal.

Ghrelin Levels in Gastric Mucosa before and after Eradication of Helicobacter pylori.

Hae Jeong Lee, Y. Choe, J. Lee, 2007, Gut and liver.

Clinical significance of ghrelin concentration of plasma and tumor tissue in patients with gastric cancer.

M. Choi, T. Sohn, J. Noh, 2007, The Journal of surgical research.

A Case of Transcatheter Alcohol Ablation of the Septum in a Patient of Hypertrophic Obstructive Cardiomyopathy

E. Shin, S. Oh, D. Jin, 1998 .

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

Y. Sohn, Myung-Whan Suh, D. Jin, 2012, American journal of medical genetics. Part A.

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty

Y. Sohn, D. Jin, Y. Jung, 2012, Korean journal of pediatrics.

Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence

C. Ki, Y. Sohn, M. Kwon, 2012, Journal of Korean medical science.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Dongsup Kim, W. Park, K. Girisha, 2016, American journal of human genetics.

Expression of Expanded Polyglutamine Disease Proteins in Drosophila (Drosophila Polyglutamine Disease Models)

D. Jin, K. Paik, Sang Min Shin, 2005 .

Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage

Y. Kuroki, K. Tokunaga, T. Toda, 1999, Journal of Human Genetics.

A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.

Munhyang Lee, Ji Hye Kim, Jeehun Lee, 2014, Annals of clinical and laboratory 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.

Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

Y. Sohn, S. Kim, Jeehun Lee, 2013, American journal of medical genetics. Part A.

A Case of Hypereosinophilic Syndrome Presenting as Pericardial Effusion, Myocarditis and Ascites

D. Jin, Seung-Jin Lee, W. Shin, 2008 .

Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome

Joongbum Cho, D. Jin, S. Cho, 2021, Annals of pediatric endocrinology & metabolism.

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

C. Ki, N. Matsumoto, Y. Sohn, 2015, Human mutation.

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

C. Ki, Y. Yook, D. Jin, 2012, Clinical genetics.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

A. Offiah, Diana S. Johnson, G. Nishimura, 2014, American journal of medical genetics. Part A.

The metabolic syndrome and body composition in childhood cancer survivors

Soo Hyun Lee, H. Koo, K. Yoo, 2011, Korean journal of pediatrics.

Relationships of cell proliferation and expression of integrin subunits and type I collagen in skin fibroblasts with renal lesions in patients with IDDM.

M. Mauer, P. Fioretto, D. Jin, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

A Y‐associated allele may be characteristic of certain ethnic groups in Asia

Y. Yamori, Y. Nakahori, A. Akane, 1992, Annals of human genetics.

Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family

D. Jin, S. Cho, D. Park, 2019, Journal of glaucoma.

A Study on Insulin Action Using Fibroblast of Leprechaunism Patients

Y. Bae, D. Jin, M. Chang, 2006 .

Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports

T. Cho, K. Ozono, T. Kubota, 2016, American journal of medical genetics. Part A.

Activating Mutation of GSα in McCune-Albright Syndrome Causes Skin Pigmentation by Tyrosinase Gene Activation on Affected Melanocytes

H. Nam, Y. Moon, D. Jin, 1999, Hormone Research in Paediatrics.

AS-252: Impact of Intravascular Ultrasound Guided Left Main Intervention with Drug-eluting Stents on 2-year Clinical Outcomes

E. Kim, H. Seo, S. Im, 2012 .

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.

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

C. Ki, Y. Sohn, S. Kim, 2012, American journal of medical genetics. Part A.

A Multi-Center, Prospective Observational Study to Investigate the Safety, Compliance, and Efficacy of Omethyl QTlet Soft Capsule

Y. Ki, T. Cha, D. Jin, 2022, Journal of clinical medicine.

Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency

S. Kim, Ji-Eun Lee, D. Jin, 2019, Scientific Reports.

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

C. Ki, D. Jin, S. Song, 2005, Human mutation.

Transcatheter Arterial Embolization as Treatment for a Life-Threatening Retroperitoneal Hemorrhage Complicating Heparin Therapy

D. Jin, Seung-Jin Lee, W. Shin, 2011, The Korean journal of internal medicine.

Spontaneous Retroperitoneal Hemorrhage and Hemothorax After Intravenous Heparin Treatment

D. Jin, Seung-Jin Lee, W. Shin, 2009 .

AS-160 Calcium Channel Blockers of Dihydropyridine Class Reduce The Antiplatelet Effect of Clopidogrel ?: What Is Clinical Impact

Seung Jin Lee, E. Kim, H. Seo, 2011 .

Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum

Ji-Eun Lee, Jinsup Kim, D. Jin, 2019, Annals of human genetics.

The impact of hyperuricemia on in-hospital mortality and incidence of acute kidney injury in patients undergoing percutaneous coronary intervention.

Eun-Young Lee, Seung-Jin Lee, Hyo-Wook Gil, 2011, Circulation journal : official journal of the Japanese Circulation Society.

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

Munhyang Lee, C. Ki, Jong-Won Kim, 2006, Journal of biochemistry and molecular biology.

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2013, Orphanet Journal of Rare Diseases.

Auditory Characteristics in Patients With Mucopolysaccharidosis.

D. Jin, I. Moon, S. Hong, 2019, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.

Y. Sohn, D. Jin, S. Cho, 2015, Molecular genetics and metabolism.

An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Y. Sohn, D. Jin, S. Cho, 2014, Intractable & rare diseases research.

Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

Y. Sohn, Jeehun Lee, D. Jin, 2012, American journal of medical genetics. Part A.

Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome

J. Kwon, D. Jin, Chihwa Kim, 2015, Orphanet Journal of Rare Diseases.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

Hyojung Park, D. Jin, Ja-Hyun Jang, 2020, Annals of pediatric endocrinology & metabolism.

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

Y. Sohn, J. Kwon, D. Jin, 2011, American journal of medical genetics. Part A.

A Case of Congenital Lipoid Adrenal Hyperplasia

Seo-Jeong Kim, D. Jin, Joo Choi, 1995 .

Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.

Young Mi Kim, H. Park, D. Jin, 2018, Annals of clinical and laboratory science.

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

C. Ki, Jong-Won Kim, Young-Eun Kim, 2017, Orphanet Journal of Rare Diseases.

Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases

Jinsup Kim, D. Jin, S. Cho, 2015, Annals of pediatric endocrinology & metabolism.

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2014, BMC Medical Genetics.

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

C. Ki, Y. Sohn, M. Kwon, 2012, International Journal of Pediatric Endocrinology.

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Jong-Won Kim, Y. Sohn, D. Jin, 2012, Korean journal of pediatrics.

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study

Eun Kyung Cho, C. Ki, Ji-Eun Lee, 2016, Orphanet Journal of Rare Diseases.

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

Y. Sohn, T. Okuyama, M. Kosuga, 2018, Journal of Inherited Metabolic Disease.

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.

Gyeong-Moon Kim, K. Lee, J. Lee, 2003, Archives of neurology.

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

D. Jin, Younghee Kwun, A. Yang, 2015, Annals of pediatric endocrinology & metabolism.

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Y. Sohn, H. Park, D. Jin, 2011, Annals of clinical and laboratory science.

Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center

D. Kong, Hyojung Park, D. Jin, 2020, Frontiers in Endocrinology.

Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.

C. Ki, Soo-Youn Lee, H. Park, 2011, Annals of clinical and laboratory science.

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

H. Park, D. Jin, S. Cho, 2013, Annals of pediatric endocrinology & metabolism.

Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization

S. Chun, D. Jin, Sung Won Park, 2009, Molecular Diagnosis & Therapy.

Comparative Study of the Effects of Different Growth Hormone Doses on Growth and Spatial Performance of Hypophysectomized Rats

M. J. Kim, S. Kim, D. Jin, 2009, Journal of Korean medical science.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

B. Burton, K. White, P. Tanpaiboon, 2014, Skeletal Radiology.

Influence of glucocorticoid, aspirin, and gamma globulin on interleukin-6 production in the hepatoma cell line.

T. Kohsaka, N. Kobayashi, A. Nakamura, 1992, Immunopharmacology.

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

A. Moser, D. Valle, K. Doheny, 2014, American journal of human genetics.

Hormone Replacement Therapy for Prevention or Treatment of Atherosclerosis in Postmenopausal Women

K. Koh, D. Jin, 1999 .

The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy

Jeehun Lee, J. Chung, S. Kim, 2022, Epilepsia.

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2013, Clinical biochemistry.

Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome).

K. Ahn, Han-Sin Jeong, D. Jin, 2006, International journal of pediatric otorhinolaryngology.

Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature

D. Jin, Sejung Park, C. Lee, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Jung‐Wook Kim, T. Cho, S. Ikegawa, 2013, American journal of medical genetics. Part A.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

C. Ki, Y. Sohn, H. Park, 2010, American journal of medical genetics. Part A.

Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)

Jeehun Lee, D. Jin, K. Paik, 2005 .

Otologic Manifestations of Hunter Syndrome and Their Relationship with Speech Development

D. Jin, Yang-Sun Cho, Son-A Chang, 2008, Audiology and Neurotology.

Otolaryngological Manifestation of Hunter Syndrome

D. Jin, C. Baek, Yang-Sun Cho, 2000 .

Continuous renal replacement therapy in neonates weighing less than 3 kg

Y. Sohn, S. Kim, Y. Chang, 2012, Korean journal of pediatrics.

Ptosis in childhood: A clinical sign of several disorders

M. Ruggieri, R. Falsaperla, P. Pavone, 2018, Medicine.

An Extremely Rare Variety of Anomalous Coronary Artery: Right Coronary Artery Originating From the Distal Left Circumflex Artery

D. Jin, Seung-Jin Lee, W. Shin, 2010, Korean circulation journal.

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Y. Sohn, S. Kim, Jinsup Kim, 2015, Molecular pharmaceutics.

Asymptomatic Cardiac Involvements of Rheumatoid Arthrits

H. Seo, Sangwoo Park, Y. Ro, 1997 .

Diagnosis of Yersinia pseudotuberculosis infection by polymerase chain reaction.

I. Ha, D. Jin, H. Park, 1996, The Pediatric infectious disease journal.

Growth Hormone Treatment and Its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome

D. Jin, Y. Jung, S. Cho, 2012 .

17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.

B. Yoon, D. Jin, D. Y. Lee, 2012, Journal of pediatric and adolescent gynecology.

Clinical Presentation and Treatment Outcomes of Children and Adolescents With Pheochromocytoma and Paraganglioma in a Single Center in Korea

Jiwon Lee, Jung-Han Kim, B. Jeong, 2021, Frontiers in Endocrinology.

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation

S. Kim, Y. Choe, D. Jin, 2011, Yonsei medical journal.

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II

Y. Sohn, Y. Chang, W. Park, 2013, Journal of Human Genetics.

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I

Jinsup Kim, H. Park, D. Jin, 2016, BMC Medical Genetics.

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

Y. Sohn, Y. Yook, Su-jin Kim, 2012, Korean Journal of Pediatrics.

Multicenter clinical trial of leuprolide acetate depot (Luphere depot 3.75 mg) for efficacy and safety in girls with central precocious puberty

Y. J. Kim, Hae-sang Lee, J. Hwang, 2013, Annals of pediatric endocrinology & metabolism.

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III

H. Park, D. Jin, H. Lim, 2022, Journal of personalized medicine.

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

Y. Sohn, S. Kim, T. Y. Jeon, 2012, Korean journal of pediatrics.

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

C. Ki, Jong-Won Kim, Y. Sohn, 2013, American journal of medical genetics. Part A.

Mutational analysis of the α‐l‐iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

D. Jin, S. Hwang, K. Paik, 2004, Clinical genetics.

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2014, Journal of Korean medical science.

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2012, Annals of laboratory medicine.

A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.

I. Kanazawa, T. Miyashita, Koichiro Nakamura, 1996, Human molecular genetics.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Munhyang Lee, Y. Hayashi, I. Nishino, 2003, Human molecular genetics.

CAG repeats of CTG18.1 and KCNN3 in Korean patients with bipolar affective disorder.

Jiwon Kim, M. Seo, D. Jin, 2001, Journal of affective disorders.

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.

Jinsup Kim, D. Jin, Ja-Hyun Jang, 2018, Annals of clinical and laboratory science.

Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection (PANDAS): Clinical Manifestations, IVIG Treatment Outcomes, Results from a Cohort of Italian Patients

S. Savasta, A. Verrotti, A. Spalice, 2018 .

Expression of Expanded Polyglutamine Protein Induces Behavioral Changes in Drosophila (Polyglutamine-Induced Changes in Drosophila)

Gyeong-Moon Kim, D. Jin, W. Lee, 2004, Cellular and Molecular Neurobiology.

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2015, Annals of Laboratory Medicine.

Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests

C. Ki, Y. Sohn, H. Park, 2013, Clinical Endocrinology.

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.

Coronary Artery Thrombosis Associated With Paclitaxel in Advanced Ovarian Cancer

D. Jin, Seung-Jin Lee, W. Shin, 2009, Korean circulation journal.

Chronic Dialysis in Infants and Children Under 2 Years of Age

Y. Sohn, S. Kim, D. Jin, 2007 .

The Effect of Growth Hormone and the Factors Influencing Growth in Pediatric Chronic Peritoneal Dialysis Patients.

Y. Sohn, S. Kim, D. Jin, 2008 .

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.

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.

Complement 4 gene deletion in patients with IgA nephropathy and Henoch-Schönlein nephritis.

T. Kohsaka, N. Kobayashi, D. Jin, 1992, Child nephrology and urology.

The influence of glucose concentration on the mechanism of rat peritoneal ultrafiltration.

T. Kohsaka, D. Jin, H. Yamazaki, 1993 .

Iron Absorption in Patients with Chronic Uremia on Maintenance Hemodialysis and in Healthy Volunteers Measured with a Simple Oral Iron Load Test

H. Cheong, T. Kohsaka, I. Ha, 1996 .

Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate

Jong-Seop Lee, D. Jin, Younghee Kwun, 2015 .

Long QT Syndrome and Torsade de Pointes Associated with Takotsubo Cardiomyopathy

Seung Jin Lee, D. Jin, W. Shin, 2011, Journal of Korean medical science.

Long-term Outcomes of Primary Stenting in Acute Myocaridal Infarction

K. Koh, E. Shin, S. Oh, 2001 .

A case of de novo 18p deletion syndrome with panhypopituitarism

Hee-Jin Kim, Ji-Eun Lee, Jinsup Kim, 2019, Annals of pediatric endocrinology & metabolism.

Comparative Effects of Diet and Statin on NO Bioactivity and Matrix Metalloproteinases in Hypercholesterolemic Patients With Coronary Artery Disease

K. Koh, E. Shin, Hyung Sik Kim, 2002, Arteriosclerosis, thrombosis, and vascular biology.

Factors Associated With Health-Related Quality of Life in Elderly Korean Patients With Heart Failure

Y. Son, Soohyun Nam, D. Jin, 2012, The Journal of cardiovascular nursing.

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

Y. Sohn, I. Kang, D. Jin, 2012, American journal of medical genetics. Part A.

Transient complete atrioventricular block associated with curcumin intake.

S. Nah, D. Jin, Seung-Jin Lee, 2011, International journal of cardiology.

Vascular effects of estrogen in type II diabetic postmenopausal women.

K. Koh, E. Shin, D. Jin, 2001, Journal of the American College of Cardiology.

Vascular effects of diet and statin in hypercholesterolemic patients.

K. Koh, E. Shin, T. Ahn, 2004, International journal of cardiology.

Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.

Jinsup Kim, D. Jin, Ja-Hyun Jang, 2018, Annals of clinical and laboratory science.

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.

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

C. Ki, Heeyeon Cho, Jeehun Lee, 2016, Annals of clinical and laboratory science.

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

C. Ki, Soo-Youn Lee, Y. Chang, 2009, Annals of clinical and laboratory science.

Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience

Jinsup Kim, D. Jin, A. Yang, 2017, Orphanet Journal of Rare Diseases.

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome

Y. Sohn, Y. Yook, D. Jin, 2014, Glycoconjugate Journal.

Hospitalizations in dialysis end-stage renal failure patients.

H. Cheong, T. Kohsaka, I. Ha, 1996 .

Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

D. Jin, S. Cho, Ari Song, 2021, Annals of pediatric endocrinology & metabolism.

Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome.

K. Tadokoro, M. Yamada, S. Kang, 1999, Renal failure.

Effects of Germanium-fortified Yeast on the Serum Lipids and Immune Cell Subset

B. Lee, Hyun-Joo Lee, Sung-Hee Lee, 2006 .

Guidelines for genetic skeletal dysplasias for pediatricians

D. Jin, S. Cho, 2015, Annals of pediatric endocrinology & metabolism.

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

C. Ki, Y. Sohn, S. Kim, 2013, Journal of Korean medical science.

Stenting of an Anomalous Coronary Artery in Acute Myocardial Infarction

E. Shin, S. Oh, D. Jin, 1998 .

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

C. Ki, Y. Sohn, D. Jin, 2013, Korean journal of pediatrics.

A Novel MLL 2 Gene Mutation in a Korean patient with Kabuki 3 Syndrome

C. Ki, Su-jin Kim, D. Jin, 2022 .

IgE‐mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome

K. Ahn, D. Jin, M. Park, 2013, Allergy.

Medical Therapy in Children with Persistent Hyperinsulinemic Hypoglycemia of Infancy(PHHI)

D. Jin, Sukhyang Lee, M. J. Kim, 2000 .

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF 1 Osteogenesis

C. Ki, Y. Sohn, S. Kim, 2013 .

Combination Therapy of Rosuvastatin and Ezetimibe in Patients with High Cardiovascular Risk.

Y. Ahn, Y. Jang, K. Koh, 2017, Clinical therapeutics.

Successful dialysis in a boy with methylmalonic acidemia

J. Lee, D. Jin, K. Paik, 2004, Pediatric Nephrology.

Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

C. Ki, Mi-Ae Jang, Jeehun Lee, 2016 .

Mowat-Wilson syndrome 1 예 Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

C. Ki, Mi-Ae Jang, Jeehun Lee, 2016 .

Heat Shock Protein 72/73 in Normal and Diseased Kidneys

H. Cheong, T. Kohsaka, I. Ha, 1996 .

Immediate and Follow-up Results of Stenting for the Small Coronary Artery Disease

K. Koh, E. Shin, S. Oh, 1999 .

Mutational spectrum in eight Korean patients with 3‐methylcrotonyl‐CoA carboxylase deficiency

C. Ki, D. Jin, Ch Kim, 2012, Clinical genetics.

The Musculoskeletal Manifestations of Prader-Willi Syndrome

S. Seo, K. Koo, J. Shim, 2010, Journal of pediatric orthopedics.

Direct Comparison between Brachial Pressure Obtained by Oscillometric Method and Central Pressure Using Invasive Method

D. Jin, Ji Yeon Lee, Seung-Jin Lee, 2011 .

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

Hitesh Shah, K. Girisha, A. Shukla, 2017, Journal of Pediatric Genetics.

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Y. Sohn, S. Kim, H. Park, 2011, Annals of clinical and laboratory science.

Appropriate Age for Height Control Treatment in Patients With Marfan Syndrome

D. Choi, Dong-Yun Lee, D. Jin, 2021, Frontiers in Endocrinology.

Complement 4 locus II gene deletion and DQA1*0301 gene: genetic risk factors for IgA nephropathy and Henoch-Schönlein nephritis.

T. Kohsaka, I. Ha, D. Jin, 1996, Nephron.

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Jong-Won Kim, Y. Sohn, Soo-Youn Lee, 2010, Annals of clinical and laboratory science.

Intravitreal human complement factor H in a rat model of laser-induced choroidal neovascularisation

Ki-yong Kim, S. Kim, D. Jin, 2012, British Journal of Ophthalmology.

Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.

C. Ki, D. Jin, Ji-Ho Lee, 2014, Annals of Clinical and Laboratory Science.

Comparative Study of the Effects of Different Growth Hormone Doses on Growth and Spatial Performance of Hypophysectomized Rats

M. J. Kim, M. Nowicki, M. Zabel, 2009, Journal of Korean medical science.

A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation

Y. Sohn, Soo-Youn Lee, H. Park, 2015 .

Joint Contracture and Radiologic Features in Mucopolysaccharidosis

J. Shim, D. Jin, S. Kim, 2004 .

Endocrine and Metabolic Illnesses in Young Adults with Prader–Willi Syndrome

D. Jin, S. Cho, C. Kim, 2022, Journal of Personalized Medicine.

Serum cystatin C for estimation of residual renal function in children on peritoneal dialysis

Y. Sohn, S. Kim, D. Jin, 2011, Pediatric Nephrology.

Clinical Characteristics and Genetic Analysis ofPrader-Willi Syndrome

Sun-Hee Kim, Jong-Won Kim, J. Lee, 2002 .

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.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Eun Kyung Cho, Jinsup Kim, D. Jin, 2017, Annals of pediatric endocrinology & metabolism.

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

C. Ki, D. Jin, Younghee Kwun, 2015, Annals of Clinical and Laboratory Science.

Study on Consequent Body Fat and Serum Lipid Metabolism after Cocoon Hydrolysate, Green Tea Leaves and Dietary Fiber Supplementation

Sung-Hee Lee, D. Jin, S. Jew, 2003 .

Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports

T. Cho, K. Ozono, T. Kubota, 2016, American journal of medical genetics. Part A.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

Prevalence of diabetes and impact on cardiovascular events and mortality in patients with chronic coronary syndromes, across multiple geographical regions and ethnicities.

T. S. Chee, D. S. Kim, S. H. Lee, 2022, European journal of preventive cardiology.

Marked Suppression of Ghrelin Concentration by Insulin in Prader-Willi Syndrome

Moon-Kyu Lee, Y. Choe, J. Lee, 2007, Journal of Korean medical science.

A Case of Partial Left Ventriculectomy in a Patient with End-stage Dilated Cardiomyopathy

K. Koh, E. Shin, S. Oh, 1998 .

A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.

S. Kim, S. Lee, D. Jin, 2014, Genetic counseling.