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Human Mutation|September 12, 2000
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemiaO Jakobovitz-Picard, D Olchovsky, M Berezin, et al.Human Mutation|September 12, 2000
MEFV mutations in Behçet's diseaseI Touitou, X Magne, N Molinari, et al.Human Mutation|September 12, 2000
Sequence variation within the RPGR gene: evidence for a founder complex alleleI Zito, A Morris, P Tyson, et al.Human Mutation|September 12, 2000
Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populationsH Pang, N Fujitani, M Soejima, et al.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.Pageof 574