Showing results (891-900 of 5,769) with videos related to
Sort By:
Pageof 577
Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.Human Mutation|September 12, 2000
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosaR Gardella, S Barlati, N Zoppi, et al.Human Mutation|April 11, 2001
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identificationF Ye, M S Li, J D Taylor, et al.Human Mutation|April 11, 2001
Identification of novel WFS1 mutations in Italian children with Wolfram syndromeA Tessa, I Carbone, M C Matteoli, et al.Human Mutation|April 11, 2001
Human GABA(B) receptor 1 gene: eight novel sequence variantsF M Hisama, J R Gruen, J Choi, et al.Human Mutation|April 11, 2001
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12M Linnebank, A Homberger, J P Kraus, et al.Human Mutation|April 24, 2001
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness familiesZ H Shah, M Toompuu, T Hakkinen, et al.Human Mutation|January 11, 2000
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) allelesA Elmgren, C Börjeson, R Mollicone, et al.Human Mutation|January 11, 2000
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancerR Shiri-Sverdlov, P Oefner, L Green, et al.Human Mutation|January 11, 2000
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)S Prasad, R A Cucci, G E Green, et al.Pageof 577