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Annals of Pediatric Endocrinology & Metabolism|June 14, 2014
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literatureChong Kun Cheon, Hoon Sang Lee, Su Yung Kim, et al.
Journal of Pediatric Hematology/Oncology|February 6, 2019
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome SequencingEu Jeen Yang, Kyung Mi Park, Yoo-Mi Kim, et al.
Hormone Research in Paediatrics|March 2, 2010
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiencyJung Min Ko, Chong-Kun Cheon, Gu-Hwan Kim, et al.
Frontiers in Neurology|December 31, 2025
Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathologyJieun Roh, Chong Kun Cheon, Soo-Yong Lee, et al.
Ophthalmic Genetics|March 10, 2026
Ocular manifestations in <i>DYRK1A</i> mutation: a five-case series from South KoreaSeung Ahn Yang, Jun Ho Boo, Heeyoung Choi, et al.
Annals of Laboratory Medicine|September 5, 2014
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndromeJi-Hun Lim, Eul-Ju Seo, Yoo-Mi Kim, et al.
Metabolic Brain Disease|June 13, 2014
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patientsJa Hye Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Experimental & Molecular Medicine|June 24, 2025
Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndromeYe Seul Kim, Sukdong Yoo, Yoon Ji Jung, et al.
Annals of Clinical and Laboratory Science|July 29, 2016
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase DeficiencyYoo-Mi Kim, Chong-Kun Cheon, Kyung-Hee Park, et al.
Korean Journal of Pediatrics|December 6, 2018
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndromeKyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, et al.
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