Showing results (3931-3940 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.Human Mutation|January 18, 2007
CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable lociMatylda Rozanska, Krzysztof Sobczak, Anna Jasinska, et al.Human Mutation|April 11, 2007
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) geneLjubica Caldovic, Hiroki Morizono, Mendel TuchmanHuman Mutation|October 28, 2008
In silico analysis of missense substitutions using sequence-alignment based methodsSean V Tavtigian, Marc S Greenblatt, Fabienne Lesueur, et al.Human Mutation|October 28, 2008
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationshipsKristina V Krasnov, Maria Tzetis, Jie Cheng, et al.Human Mutation|November 13, 2007
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2HValentina Saccone, Michela Palmieri, Luigia Passamano, et al.Human Mutation|November 13, 2007
Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threadsErik Pettersson, Pawel Zajac, Patrik L Ståhl, et al.Human Mutation|November 14, 2007
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutationsEster Ballana, Nancy Govea, Rafael de Cid, et al.Human Mutation|November 15, 2007
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerMartin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, et al.Human Mutation|March 24, 2009
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold, Anna Pelet, Jeanne Amiel, et al.Pageof 583