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Oncogene|March 1, 1993
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesisD H Gutmann, M Boguski, D Marchuk, et al.The EMBO Journal|October 1, 1986
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intronJ E Metherall, F S Collins, J Pan, et al.The American Journal of Surgical Pathology|July 1, 1984
Infantile myofibromatosis. Evidence for an autosomal-dominant disorderT A Jennings, P H Duray, F S Collins, et al.Proceedings of the National Academy of Sciences of the United States of America|August 1, 1984
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma geneF S Collins, C J Stoeckert, G R Serjeant, et al.Somatic Cell and Molecular Genetics|September 1, 1996
Chromosomal localization of 15 ion channel genesM W Russell, S du Manoir, D J Munroe, et al.Proceedings of the National Academy of Sciences of the United States of America|November 1, 1993
Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulatorL S Smit, D J Wilkinson, M K Mansoura, et al.Journal of Neuroscience Research|October 1, 1993
Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiationD H Gutmann, G I Tennekoon, J L Cole, et al.Genes, Chromosomes & Cancer|May 1, 1994
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type ID H Gutmann, J L Cole, W J Stone, et al.Nature Genetics|December 1, 1996
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysisJ G Hacia, L C Brody, M S Chee, et al.Human Genetics|January 1, 1994
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in JapaneseT Horiuchi, N Hatta, M Matsumoto, et al.Pageof 24