Guidelines for genetic skeletal dysplasias for pediatricians

by Cho, Sung Yoon, Jin, Dong-Kyu
Published 2015

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

by Kwak, Min Jung, Huh, Rimm, Kim, Jinsup, Park, Hyung-Doo, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2016

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

by Jeong, Je Hoon, Lee, A Leum, Cho, Sung Yoon, Jin, Dong Kyu, Im, Soo-Bin
Published 2016

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

by Kim, Hyeseon, Kim, Jinsup, Huh, Rimm, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2015

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

by Yoo, Yangho, Chang, Mi Sun, Lee, Jieun, Cho, Sung Yoon, Park, Sung Won, Jin, Dong-Kyu, Park, Hyung-Doo
Published 2013

Serum levels of FGF21 are reduced and negatively correlated with adiponectin in children with Prader-Willi syndrome

by Kim, Su Jin, Sohn, Young Bae, Cho, Sung-Yoon, Choi, Young Ok, Kim, Chi Hwa, Jin, Dong-Kyu
Published 2013

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

by Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Kim, Su Jin, Maeng, Se Hyun, Jin, Dong-Kyu
Published 2013

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

by Cho, Eun-Kyung, Kim, Jinsup, Yang, Aram, Ki, Chang-Seok, Lee, Ji-Eun, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2016

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

by Kim, Doosoo, Cho, Sung Yoon, Yeau, Sung-Hee, Park, Sung Won, Sohn, Young Bae, Kwon, Min-Jung, Kim, Ji-Yeon, Ki, Chang-Seok, Jin, Dong-Kyu
Published 2012

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

by Sohn, Young Bae, Cho, Sung Yoon, Park, Sung Won, Kim, Su Jin, Ko, Ah-Ra, Kwon, Eun-Kyung, Han, Sun Ju, Jin, Dong-Kyu
Published 2013

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

by Kim, Young-Eun, Park, Hyung-Doo, Jang, Mi-Ae, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2013

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

by Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Published 2012

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

by Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Published 2013

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

by Kim, Soo Jin, Cho, Sung Yoon, Maeng, Se Hyun, Sohn, Young Bae, Kim, Su-Jin, Ki, Chang-Seok, Jin, Dong-Kyu
Published 2013

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

by Huh, Hee Jae, Seo, Ja Young, Cho, Sung Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Park, Hyung-Doo, Jin, Dong-Kyu
Published 2013

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

by Kim, Doosoo, Cho, Sung-Yoon, Maeng, Se-Hyun, Yi, Eun Sang, Jung, Yu Jin, Park, Sung Won, Sohn, Young Bae, Jin, Dong-Kyu
Published 2012

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

by Jin, Hyung Suk, Song, Ho young, Cho, Sung Yoon, Ki, Chang-Seok, Yang, Song Hyun, Kim, Ok-Hwa, Kim, Su Jin
Published 2017

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

by Cho, Sung Yoon, Lee, Jeehun, Ko, Ah-Ra, Kwak, Min Jung, Kim, Sujin, Sohn, Young Bae, Park, Sung Won, Jin, Dong-Kyu
Published 2015

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

by Kim, Chihwa, Kwak, Min Jung, Cho, Sung Yoon, Ko, Ah-ra, Rheey, Jinguen, Kwon, Jeong-Yi, Chung, Yokyung, Jin, Dong-Kyu
Published 2015

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

by Yang, Aram, Lee, Yeon Hee, Nam, Soon Young, Jeong, Yu Ju, Kyung, Yechan, Huh, Rimm, Lee, Jieun, Kwun, Younghee, Cho, Sung Yoon, Jin, Dong-Kyu
Published 2015