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Stem Cell Research & Therapy|September 9, 2015
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cellsDongkyu Kim, Jieun Choi, Kyu-Min Han, et al.Journal of Korean Medical Science|April 28, 2026
Evaluation of Team-Based Genetic Counseling Services in KoreaIn Hee Choi, Su Min Ji, Seo Yeon Yang, et al.Orphanet Journal of Rare Diseases|May 17, 2025
Endocrine manifestations and long-term outcomes of patients with mitochondrial diseasesJa Hye Kim, Dohyung Kim, Soojin Hwang, et al.Annals of Pediatric Endocrinology & Metabolism|April 23, 2016
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndromeInsook Jeong, Eungu Kang, Ja Hyang Cho, et al.Korean Journal of Pediatrics|March 1, 2012
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroupsJu-Young Lee, Beom Hee Lee, Gu-Hwan Kim, et al.Pediatric Gastroenterology, Hepatology & Nutrition|September 27, 2019
Novel <i>ATP8B1</i> Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1Eun Sang Rhee, Yu Bin Kim, Sunghee Lee, et al.Journal of Clinical Medicine|November 25, 2020
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic DisordersMin-Jee Kim, Mi-Sun Yum, Go Hun Seo, et al.Journal of Human Genetics|October 28, 2011
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutationsChang-Woo Jung, Beom Hee Lee, Joo Hyun Kim, et al.International Journal of Molecular Sciences|December 2, 2017
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome PatientJung-Yun Choi, Kyu-Min Han, Dongkyu Kim, et al.Journal of Human Genetics|June 24, 2016
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomesJa Hye Kim, Beom Hee Lee, Ja Hyang Cho, et al.Pageof 20