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Journal of Bone Metabolism|February 14, 2014
A Case of CATCH22 Syndrome Diagnosed in Postmenopausal WomanSeung Kyung Lee, Min Jeong Lee, Hyo Jin Lee, et al.Annals of Clinical and Laboratory Science|July 26, 2013
Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridizationYoung Bae Sohn, Jun No Yun, Sang-Jin Park, et al.Frontiers in Pediatrics|February 6, 2025
Case Report: The first Korean familial case of <i>BCAP31</i>-related deafness, dystonia, and cerebral hypomyelinationYoong-A Suh, Jisun Hwang, Go Hun Seo, et al.American Journal of Medical Genetics. Part A|March 27, 2013
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II miceYoung Bae Sohn, Jeehun Lee, Sung Yoon Cho, et al.American Journal of Medical Genetics. Part A|October 24, 2014
Disease-specific growth charts for Korean infants with Prader-Willi syndromeJieun Lee, Tsuyoshi Isojima, Mi Sun Chang, et al.Yonsei Medical Journal|October 22, 2013
Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center studyCha Gon Lee, Sang-Jin Park, Jun-No Yun, et al.Korean Journal of Pediatrics|September 11, 2013
A novel MLL2 gene mutation in a Korean patient with Kabuki syndromeSoo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, et al.Annals of Clinical and Laboratory Science|August 7, 2010
Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type IaChang-Hun Park, Hyung-Doo Park, Soo-Youn Lee, et al.Journal of Human Genetics|January 11, 2013
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in KoreaSung Yoon Cho, Chang-Seok Ki, Young Bae Sohn, et al.Orphanet Journal of Rare Diseases|November 2, 2015
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type IISung Yoon Cho, Jeehun Lee, Ah-Ra Ko, et al.Pageof 9