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Human Mutation|July 17, 1999
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCC Gallou, D Joly, A Méjean, et al.Human Mutation|July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disordersZ Zhang, Y Suzuki, N Shimozawa, et al.Human Mutation|July 17, 1999
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. OnlineK Möller-Morlang, K Tavassoli, A Eigel, et al.Human Mutation|April 3, 1999
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. OnlineN Raben, E Lee, L Lee, et al.Human Mutation|July 29, 1999
Update of the androgen receptor gene mutations databaseB Gottlieb, L K Beitel, R Lumbroso, et al.Human Mutation|July 29, 1999
Clinical spectrum of fibroblast growth factor receptor mutationsM R Passos-Bueno, W R Wilcox, E W Jabs, et al.Human Mutation|July 29, 1999
A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exonP Maillet, N Dalla Venezia, F Lorenzo, et al.Human Mutation|July 29, 1999
Identification of 9 novel FBN1 mutations in German patients with Marfan syndromeA A El-Aleem, M Karck, A Haverich, et al.Human Mutation|September 8, 1999
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTL Christiansen, C Ged, I Hombrados, et al.Human Mutation|September 8, 1999
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidusJ L Rocha, E Friedman, W Boson, et al.Pageof 577