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American Journal of Human Genetics|May 27, 2005
Segmental duplications and copy-number variation in the human genomeAndrew J Sharp, Devin P Locke, Sean D McGrath, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and GenomicsFrederick R Bieber, Athena M Cherry, Beverly S Emanuel, et al.Nature|August 20, 2004
The structure and evolution of centromeric transition regions within the human genomeXinwei She, Julie E Horvath, Zhaoshi Jiang, et al.Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, 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.Cancer Research|January 4, 2008
Paxillin is a target for somatic mutations in lung cancer: implications for cell growth and invasionRamasamy Jagadeeswaran, Hanna Surawska, Soundararajan Krishnaswamy, et al.American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.Pageof 7