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Korean Journal of Pediatrics|January 10, 2013
Diagnosis and constitutional and laboratory features of Korean girls referred for precocious pubertyDoosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, et al.
Annals of Clinical and Laboratory Science|July 1, 2022
The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature ReviewEun-Jung Kwon, Min-Sun Kim, Eu-Seon Noh, et al.
Annals of Clinical and Laboratory Science|February 20, 2015
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridiaMi Sun Chang, Jong Chul Han, Jieun Lee, et al.
Annals of Laboratory Medicine|January 10, 2013
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigationHee Jae Huh, Ja Young Seo, Sung Yoon Cho, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short statureSung Yoon Cho, Chang-Seok Ki, Ja-Hyun Jang, et al.
Frontiers in Endocrinology|February 15, 2021
Clinical Presentation and Treatment Outcomes of Children and Adolescents With Pheochromocytoma and Paraganglioma in a Single Center in KoreaHyojung Park, Min-Sun Kim, Jiwon Lee, et al.
Annals of Laboratory Medicine|May 14, 2013
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIBYoung-Eun Kim, Hyung-Doo Park, Mi-Ae Jang, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome)Young Bae Sohn, Sung Yoon Cho, Sung Won Park, et al.
Korean Journal of Pediatrics|December 11, 2012
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVANa Hee Lee, Sung Yoon Cho, Se Hyun Maeng, et al.
Annals of Pediatric Endocrinology & Metabolism|April 18, 2015
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletionAram Yang, Yeon Hee Lee, Soon Young Nam, et al.
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