Showing results (1911-1920 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|February 22, 2002
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.Human Mutation|February 22, 2002
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromasLan Kluwe, Reinhard E Friedrich, Bruce Korf, et al.Human Mutation|January 6, 2006
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicingJessie Auclair, Marie Pierre Busine, Claudine Navarro, et al.Human Mutation|January 6, 2006
Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patientsM Goldberg, C Rummelt, S Foja, et al.Human Mutation|January 21, 2006
Distribution of human SNPs and its effect on high-throughput genotypingDaniel C Koboldt, Raymond D Miller, Pui-Yan KwokHuman Mutation|January 24, 2006
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertensionMicheala A Aldred, Jairam Vijayakrishnan, Victoria James, et al.Human Mutation|November 26, 1998
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyF Tesson, P Richard, P Charron, et al.Human Mutation|November 26, 1998
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII geneS L Laprise, E K Mak, K A Killoran, et al.Human Mutation|October 29, 1998
Testing environment for single-gene disorders in U.S. reference laboratoriesJ Amos, B GoldHuman Mutation|October 29, 1998
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric allelesT Popescu, M Blazkova, L Kozak, et al.Pageof 574