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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.Human Mutation|February 19, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts, W Van HulHuman Mutation|February 19, 2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B WirthHuman Mutation|February 19, 2000
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from RussiaT V Pogoda, I N Krakhmaleva, N A Lipatova, et al.Human Mutation|February 19, 2000
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics GroupO P Kristiansen, F Pociot, E P Bennett, et al.Pageof 577