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Human Mutation|March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndromeDanielle Ingham, Christine P Diggle, Ian Berry, et al.Human Mutation|March 25, 2009
Genetic and epigenetic analysis of recurrent hydatidiform moleBruce E Hayward, Michel De Vos, Nargese Talati, et al.Journal of the National Cancer Institute|March 2, 2006
PMS2 mutations in childhood cancerMichel De Vos, Bruce E Hayward, Ruth Charlton, et al.American Journal of Human Genetics|November 10, 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasiaMohammad R Abdollahi, Ewan Morrison, Tamara Sirey, et al.American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.Plos One|April 8, 2017
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain developmentChristine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, et al.Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.Nature|October 1, 2020
Repeat expansions confer WRN dependence in microsatellite-unstable cancersNiek van Wietmarschen, Sriram Sridharan, William J Nathan, et al.Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.Pageof 4