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American Journal of Human Genetics|December 24, 2013
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence dataZongxiao He, Brian J O'Roak, Joshua D Smith, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
American Journal of Human Genetics|May 1, 1987
DNA length polymorphism located 5' to the human myelin basic protein geneK B Boylan, N Takahashi, M Diamond, et al.
American Journal of Human Genetics|December 10, 2013
Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traitsMiles C Benton, Rod A Lea, Donia Macartney-Coxson, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaMariem Ben Khelifa, Charles Coutton, Raoudha Zouari, et al.
American Journal of Human Genetics|September 5, 2015
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin SignalingGeorgia Vasileiou, Arif B Ekici, Steffen Uebe, et al.
American Journal of Human Genetics|February 6, 2016
Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common DiseaseWouter J Peyrot, Dorret I Boomsma, Brenda W J H Penninx, et al.
American Journal of Human Genetics|April 5, 2016
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTExJiebiao Wang, Eric R Gamazon, Brandon L Pierce, et al.
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
American Journal of Human Genetics|November 1, 1986
Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypesA Di Rienzo, A Novelletto, M C Aliquò, et al.
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