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American Journal of Human Genetics|February 12, 2004
Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST)Chun Li, Laura J Scott, Michael BoehnkeAmerican Journal of Human Genetics|May 7, 2013
eXclusion: toward integrating the X chromosome in genome-wide association analysesAnastasia L Wise, Lin Gyi, Teri A ManolioAmerican Journal of Human Genetics|July 1, 1990
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IVS Kontusaari, G Tromp, H Kuivaniemi, et al.American Journal of Human Genetics|July 1, 1990
A 6-bp deletion 5' to the G gamma globin gene in beta S chromosomes bearing the Bantu haplotypeE E Bouhassira, R L NagelAmerican Journal of Human Genetics|July 1, 1990
Complex alleles of the acid beta-glucosidase gene in Gaucher diseaseT Latham, G A Grabowski, B D Theophilus, et al.American Journal of Human Genetics|February 19, 2013
ADAMTS7 cleavage and vascular smooth muscle cell migration is affected by a coronary-artery-disease-associated variantXiangyuan Pu, Qingzhong Xiao, Stefan Kiechl, et al.American Journal of Human Genetics|May 21, 2013
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos diseaseMing Li, Ruhong Cheng, Jianying Liang, et al.American Journal of Human Genetics|July 9, 2013
Identification of multiple genetic susceptibility loci in Takayasu arteritisGüher Saruhan-Direskeneli, Travis Hughes, Kenan Aksu, et al.American Journal of Human Genetics|July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRim Hjeij, Anna Lindstrand, Richard Francis, et al.American Journal of Human Genetics|December 11, 2012
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilitiesMichael E Talkowski, Gilles Maussion, Liam Crapper, et al.Pageof 980