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Molecular Medicine (Cambridge, Mass.)|May 4, 2017
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal HyperplasiaEungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, et al.Joint Bone Spine|September 22, 2014
Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutationsBeom Hee Lee, Ok-Hwa Kim, Hye-Kyung Yoon, et al.Stem Cells and Development|February 26, 2016
Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem CellsYeji Kim, Jung-Yun Choi, Sang-Hee Lee, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|January 1, 2022
Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiencyYunha Choi, Arum Oh, Yena Lee, et al.Molecular Genetics and Metabolism|January 10, 2012
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher diseaseBeom Hee Lee, Dae-Yeon Kim, Gu-Hwan Kim, et al.Journal of Pediatric Gastroenterology and Nutrition|March 19, 2011
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitisYeoun Joo Lee, Kyung Mo Kim, Jin Ho Choi, et al.Pediatric Neurology|January 8, 2015
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hairJin-Ho Choi, Moon-Yeon Oh, Mi-Sun Yum, et al.Gene|June 18, 2013
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiencyYoo-Mi Kim, Beom Hee Lee, Jin-Ho Choi, et al.Journal of Human Genetics|November 11, 2016
Biochemical and molecular characteristics of citrin deficiency in Korean childrenSeak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, et al.Proteomics. Clinical Applications|June 18, 2010
Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's diseaseJung-Young Park, Joo Hee Mun, Beom Hee Lee, et al.Pageof 20