Showing results (1551-1560 of 5,778) with videos related to
Sort By:
Pageof 578
Human Mutation|June 23, 2006
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterizationAna B Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, et al.Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.Human Mutation|May 8, 2007
Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathyGui-Sen Li, Li Zhu, Hong Zhang, et al.Human Mutation|June 9, 2007
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivationJessie Auclair, Dominique Leroux, Françoise Desseigne, et al.Human Mutation|February 14, 2007
Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variantsThomas Hocker, Hensin TsaoHuman Mutation|February 14, 2007
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domainBrigitte Chhin, Minoru Hatayama, Dominique Bozon, et al.Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.Human Mutation|February 7, 2007
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosisEsther Pomares, Gemma Marfany, Ma José Brión, et al.Human Mutation|February 7, 2007
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor informationA Osorio, R L Milne, E Honrado, et al.Human Mutation|January 16, 2007
Identification of seven novel germline mutations in the human E-cadherin (CDH1) geneH More, B Humar, W Weber, et al.Pageof 578