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Scientific Reports|October 4, 2017
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 geneChong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, et al.Scientific Reports|February 10, 2025
Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient miceHyesook Lee, Jung-Hwa Han, Roo Gam Jeong, et al.Annals of Pediatric Endocrinology & Metabolism|July 4, 2020
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiencyYena Lee, Jin-Ho Choi, Arum Oh, et al.Journal of Human Genetics|December 15, 2010
Low prevalence of classical galactosemia in Korean populationBeom Hee Lee, Chong Kun Cheon, Jae-Min Kim, et al.Scientific Reports|June 20, 2020
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delayKyu-Sun Lee, Miri Choi, Dae-Woo Kwon, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 8, 2020
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South KoreaChong Kun Cheon, Yeoun Joo Lee, Sukdong Yoo, et al.Clinical Genetics|April 21, 2017
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencingYoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, et al.Molecular Cytogenetics|May 10, 2011
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal casesSang-Jin Park, Eun Hye Jung, Ran-Suk Ryu, et al.Clinical Endocrinology|August 18, 2009
The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndromeJung Min Ko, Jae-Min Kim, Chong-Kun Cheon, et al.Annals of Pediatric Endocrinology & Metabolism|October 13, 2017
A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fractureJi-Yeon Song, Sue-Jean Mun, Soon-Ki Sung, et al.Pageof 9