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Human Mutation|March 27, 1999
Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. OnlineL Picci, M Cameran, P Olante, et al.Human Mutation|March 27, 1999
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. OnlineC Dubourg, S Odent, P Fergelot, et al.Human Mutation|April 17, 1999
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. OnlineK J Norrgard, R J Pomponio, K L Swango, et al.Human Mutation|April 17, 1999
Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus. Mutations in brief no. 130. OnlineS Mammarella, B Creati, D L Esposito, et al.Human Mutation|January 1, 1995
Molecular characterization of galactosemia (type 1) mutations in JapaneseJ Ashino, Y Okano, I Suyama, et al.Human Mutation|January 1, 1995
Three novel aniridia mutations in the human PAX6 geneA Martha, L C Strong, R E Ferrell, et al.Human Mutation|January 1, 1995
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1BP Latour, F Blanquet, E Nelis, et al.Human Mutation|January 1, 1994
Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencingR D Hain, D Chitayat, R Cooper, et al.Human Mutation|January 1, 1993
A method to isolate DNA from small archival tissue samples for p53 gene analysisE L Schubert, F Z Bischoff, L L Whitaker, et al.Pageof 577