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Human Mutation|July 17, 2010
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsJames J Cox, Jony Sheynin, Zamir Shorer, et al.Plos Genetics|August 7, 2015
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionSitvanit Haziza, Roberta Magnani, Dima Lan, et al.European Journal of Human Genetics : EJHG|August 20, 2021
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertilityMaram Arafat, Sandra E Kleiman, Ali AbuMadighem, et al.Plos Genetics|September 14, 2020
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated CardiomyopathyAviva Levitas, Emad Muhammad, Yuan Zhang, et al.The Journal of Clinical Endocrinology and Metabolism|January 23, 2013
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450sccMeng Kian Tee, Michal Abramsohn, Neta Loewenthal, et al.Human Genetics|December 25, 2010
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12Emad Muhammad, Neta Leventhal, Galit Parvari, et al.Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.Pageof 5