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American Journal of Human Genetics|October 5, 2010
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndromeNatascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, et al.American Journal of Human Genetics|October 6, 2010
Identification of copy number variation hotspots in human populationsWenqing Fu, Feng Zhang, Yi Wang, et al.American Journal of Human Genetics|October 6, 2010
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathyHeather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, et al.American Journal of Human Genetics|August 28, 2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla, Julie Gauthier, Rachel A Myers, et al.American Journal of Human Genetics|September 1, 1990
Genetic analysis of apolipoprotein A-I in two dietary environmentsJ Blangero, J W MacCluer, C M Kammerer, et al.American Journal of Human Genetics|January 8, 2011
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2Tommaso Pippucci, Anna Savoia, Silverio Perrotta, et al.American Journal of Human Genetics|November 27, 2010
Population differences in the rate of proliferation of international HapMap cell linesAmy L Stark, Wei Zhang, Tong Zhou, et al.American Journal of Human Genetics|November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsGaneshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.American Journal of Human Genetics|November 27, 2010
Whole-exome-sequencing-based discovery of human FADD deficiencyAlexandre Bolze, Minji Byun, David McDonald, et al.American Journal of Human Genetics|November 27, 2010
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyHulya Gundesli, Beril Talim, Petek Korkusuz, et al.Pageof 979