Showing results (1841-1850 of 5,734) with videos related to
Sort By:
Pageof 574
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.Human Mutation|January 1, 1993
Screening for molecular pathologies in Lesch-Nyhan syndromeM Boyd, W G Lanyon, J M ConnorHuman Mutation|January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion IslandT Bienvenu, S Bousquet, C Herbulot, et al.Human Mutation|January 1, 1995
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindredD D Belsham, F Pereira, C R Greenberg, et al.Human Mutation|January 1, 1995
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Markiewicz, H S Chen, et al.Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.Pageof 574