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American Journal of Human Genetics|January 10, 2004
Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling PathwayAnne Joutel, Marie Monet, Valérie Domenga, et al.American Journal of Human Genetics|September 26, 2003
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsJ-H Chai, D P Locke, J M Greally, et al.American Journal of Human Genetics|September 27, 2003
Localization of a gene for migraine without aura to chromosome 4q21Asgeir Björnsson, Grétar Gudmundsson, Einar Gudfinnsson, et al.American Journal of Human Genetics|September 27, 2003
Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversityEwa Zietkiewicz, Vania Yotova, Dominik Gehl, et al.American Journal of Human Genetics|October 16, 2003
Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populationsJinghui Zhang, William L Rowe, Andrew G Clark, et al.American Journal of Human Genetics|February 12, 2004
Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal ageKristel M van Asselt, Helen S Kok, Hein Putter, et al.American Journal of Human Genetics|October 24, 2007
Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterolVictor Spirin, Steffen Schmidt, Alexander Pertsemlidis, et al.American Journal of Human Genetics|June 15, 2007
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch populationFan Liu, Alejandro Arias-Vásquez, Kristel Sleegers, et al.American Journal of Human Genetics|June 15, 2007
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral stateOlga V Plotnikova, Fyodor A Kondrashov, Peter K Vlasov, et al.American Journal of Human Genetics|June 15, 2007
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onsetIsabelle Maystadt, René Rezsöhazy, Martine Barkats, et al.Pageof 979