S. Cho

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.

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

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

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.

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.

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

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

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

O. Mäkitie, Dongsup Kim, G. Stewart, 2019, American journal of human genetics.

University of Birmingham Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

O. Mäkitie, Dongsup Kim, G. Stewart, 2019 .

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.

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.

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.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

P. Parisi, S. Marino, P. Pavone, 2020, Neuropediatrics.

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

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

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.

Ptosis in childhood: A clinical sign of several disorders

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

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

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

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 .

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.

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.

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.

A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences

Soo-Youn Lee, H. Park, Ja-Hyun Jang, 2022, Annals of human 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.

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 .

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.

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

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

A case of de novo 18p deletion syndrome with panhypopituitarism

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

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.

Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.

S. Kim, Y. Kwon, Ji-Eun Lee, 2022, Endocrine journal.

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.

Development and Validation of a Distress Measurement Related to Glucose Monitoring of Diabetes Patients

Juhee Cho, D. Kang, Sooyeon Kim, 2023, Diabetes Therapy.

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports

T. Y. Jeon, Ja-Hyun Jang, S. Cho, 2023, Medicine.

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.

A Case of Mitochondrial Trifunctional Protein Deficiency with HADHB Variants Diagnosed Using Whole-Exome Sequencing

Jiwon Lee, Jeehun Lee, S. Cho, 2021, Annals of Child Neurology.

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.

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.

Guidelines for genetic skeletal dysplasias for pediatricians

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

A case of ROHHAD (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) syndrome in an 11-year-old girl

K. Ahn, E. Joo, Jihyun Kim, 2021, Allergy, Asthma & Respiratory Disease.

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.

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 .

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 .

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.

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.

Development and validation of a distress measurement for insulin injections among patients with diabetes

Juhee Cho, D. Kang, Sooyeon Kim, 2023, Scientific Reports.

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.

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 .

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

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

Clinical characteristics, treatment outcomes, and occurrence of diabetes mellitus after pancreatic resection of solid pseudopapillary tumor in children and adolescents: A single institution experience with 51 cases.

S. Yoo, Sanghoon Lee, S. Lee, 2021, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

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

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

C. Ki, S. Kim, O. Kim, 2016, Annals of laboratory medicine.

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.

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.

Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

D. Jin, J. Jeong, S. Im, 2016, Medicine.