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BMC Pediatrics|March 10, 2018
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screeningEungu Kang, Yoon-Myung Kim, Minji Kang, et al.
Journal of Clinical Neurology (Seoul, Korea)|April 16, 2024
Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington's Disease in South KoreaYun Su Hwang, Sungyang Jo, Gu-Hwan Kim, 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.
Molecular Genetics and Metabolism Reports|August 19, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndromeJoonil Kim, Eungu Kang, Yoonmyung Kim, 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.
Molecular and Cellular Endocrinology|January 29, 2017
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex developmentJa Hye Kim, Eungu Kang, Sun Hee Heo, et al.
Metabolism: Clinical and Experimental|October 22, 2013
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutationYoo-Mi Kim, Minji Kang, Jin-Ho Choi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|February 14, 2015
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndromeJin Min Cho, Seak Hee Oh, Hyun Jin Kim, et al.
Journal of Clinical Neurology (Seoul, Korea)|January 13, 2016
Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion SyndromeEun Hee Kim, Mi Sun Yum, Beom Hee Lee, et al.
Metabolism: Clinical and Experimental|June 3, 2011
Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenitaJin-Ho Choi, Jung-Young Park, Gu-Hwan Kim, et al.
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