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Journal of Human Genetics|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.Molecular Genetics & Genomic Medicine|December 24, 2022
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literatureYunha Choi, Jungmin Choi, Hyosang Do, et al.Journal of Human Genetics|May 28, 2010
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newbornsBeom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, et al.Hormone Research in Paediatrics|March 14, 2015
Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinismBeom Hee Lee, Jin Lee, Jae-Min Kim, et al.Orphanet Journal of Rare Diseases|November 12, 2020
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effectsYoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, et al.Pediatric Nephrology (Berlin, Germany)|February 19, 2008
Variable phenotype of Pierson syndromeHyun Jin Choi, Beom Hee Lee, Ju Hyung Kang, et al.Korean Journal of Pediatrics|December 27, 2016
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphismsYoon-Myung Kim, In-Hee Choi, Jun Suk Kim, et al.Journal of Human Genetics|August 28, 2019
Identification of extremely rare mitochondrial disorders by whole exome sequencingGo Hun Seo, Arum Oh, Eun Na Kim, et al.BMC Medical Genomics|September 29, 2022
Clinical and genetic analyses of patients with lateralized overgrowthYoon-Myung Kim, Yena Lee, Yunha Choi, et al.American Journal of Medical Genetics. Part A|March 3, 2015
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)David D Weaver, Audrey R Norby, Jill A Rosenfeld, et al.Pageof 20