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American Journal of Human Genetics|November 27, 2012
Differential relationship of DNA replication timing to different forms of human mutation and variationAmnon Koren, Paz Polak, James Nemesh, et al.American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.American Journal of Human Genetics|November 27, 2012
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.American Journal of Human Genetics|July 1, 1997
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2J N Berg, C J Gallione, T T Stenzel, et al.American Journal of Human Genetics|July 1, 1997
Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expressionA C Jäger, M L Bisgaard, T Myrhøj, et al.American Journal of Human Genetics|July 1, 1997
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103M Neerman-Arbez, S E Antonarakis, J L Blouin, et al.American Journal of Human Genetics|July 1, 1997
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28E Pegoraro, J Whitaker, P Mowery-Rushton, et al.American Journal of Human Genetics|July 1, 1997
Evidence that the apolipoprotein E-genotype effects on lipid levels can change with age in males: a longitudinal analysisG P Jarvik, E L Goode, M A Austin, et al.American Journal of Human Genetics|July 1, 1997
Fc epsilon R1-beta polymorphism and total serum IgE levels in endemically parasitized Australian aboriginesL J Palmer, P D Paré, J A Faux, et al.Pageof 980