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Familial Cancer|March 16, 2011
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studiesKarin Hardt, Sven Boris Heick, Beate Betz, et al.
American Journal of Industrial Medicine|November 26, 2020
Mental health stigma and barriers to care in World Trade Center responders: Results from a large, population-based health monitoring cohortJonathan DePierro, Sandra M Lowe, Peter T Haugen, et al.
Familial Cancer|January 19, 2016
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposisIsabel Spier, Martin Kerick, Dmitriy Drichel, et al.
Journal of Medical Genetics|November 29, 2015
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis casesIsabel Spier, Dmitriy Drichel, Martin Kerick, et al.
Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.
Plos Genetics|October 25, 2011
Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genomeKirk E Lohmueller, Anders Albrechtsen, Yingrui Li, et al.
BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
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