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Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.Human Mutation|July 17, 2009
EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionallyYuichi Abe, Akira Oka, Masashi Mizuguchi, et al.Human Mutation|February 11, 2009
Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian populationVincent Ménard, Hugo Girard, Mario Harvey, et al.Human Mutation|July 4, 2007
Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinomaGangqiao Zhou, Yun Zhai, Ying Cui, et al.Human Mutation|November 8, 2006
Schimke immunoosseous dysplasia: suggestions of genetic diversityJ Marietta Clewing, Helen Fryssira, David Goodman, et al.Human Mutation|October 7, 2006
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisonsHildegard Kehrer-Sawatzki, David N CooperHuman Mutation|October 18, 2006
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindnessStephen H Tsang, Michael L Woodruff, Lin Jun, et al.Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.Human Mutation|December 17, 2008
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD geneElena Botta, Tiziana Nardo, Donata Orioli, et al.Pageof 575