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Journal of Human Genetics|May 22, 2015
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJin-Ho Choi, Beom Hee Lee, Ja Hye Kim, et al.Proteomics|February 26, 2013
Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapySun Hee Heo, Jin-Ho Choi, Yoo-Mi Kim, et al.Proteomics|July 14, 2011
Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson diseaseBeom H Lee, Jae-Min Kim, Sun H 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.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|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.Journal of Korean Medical Science|April 26, 2008
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry diseaseJin-Ho Choi, Young Mi Cho, Kwang-Sun Suh, et al.Pageof 18