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Human Mutation|November 18, 2014
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 familyFei Mao, Zhaohui Li, Baoyue Zhao, et al.Human Mutation|March 29, 2000
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesK White, A Marquardt, B H WeberHuman Mutation|March 29, 2000
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase geneE MornetHuman Mutation|March 29, 2000
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiencyY Zhang, K M Dipple, E Vilain, et al.Human Mutation|March 29, 2000
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patientsI V Mersiyanova, S M Ismailov, A V Polyakov, et al.Human Mutation|March 29, 2000
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in CyprusS L Xenophontos, A Pierides, K Demetriou, et al.Human Mutation|March 29, 2000
Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean areaJ R Blesa, J A García, E OchoaHuman Mutation|March 29, 2000
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndromeS J Kim, E H CookHuman Mutation|March 29, 2000
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patientsM Medlej-Hashim, M Rawashdeh, E Chouery, et al.Human Mutation|March 29, 2000
Novel mutations of the RPGR gene in RP3 familiesI Zito, M B Gorin, C Plant, et al.Pageof 574