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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.Human Mutation|December 17, 2008
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PKRichard van Wijk, Eric G Huizinga, Annet C W van Wesel, et al.Human Mutation|March 10, 2009
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplexWera Roth, Ursula Reuter, Claudia Wohlenberg, et al.Pageof 578