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Stem Cell Research & Therapy|June 5, 2020
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitroYounghee Ju, Jun Sung Park, Daejeong Kim, et al.
Pediatric Nephrology (Berlin, Germany)|September 5, 2006
Idiopathic membranous nephropathy in childrenBeom Hee Lee, Hee Yeon Cho, Hee Gyung Kang, et al.
Molecular Genetics & Genomic Medicine|January 24, 2024
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean familySeung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, et al.
Gut and Liver|March 1, 2012
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose IntoleranceHae-Won Choi, Yeoun Joo Lee, Seak Hee Oh, et al.
Korean Journal of Pediatrics|February 20, 2016
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delayGo Hun Seo, Ja Hye Kim, Ja Hyang Cho, et al.
Brain & Development|February 26, 2013
Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalisBeom Hee Lee, Yoo-Mi Kim, Joo Hyun Kim, et al.
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.
BMC Medical Genomics|October 31, 2023
Genetic heterogeneity of cardiomyopathy and its correlation with patient careMi Jin Kim, Seulgi Cha, Jae Suk Baek, 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.
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