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Human Mutation|December 6, 2013
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interfaceChristopher M Watson, Laura A Crinnion, Joanne E Morgan, et al.The Journal of Physiology|February 9, 2011
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndromeDorothy A Thompson, Sally Feather, Horia C Stanescu, et al.Human Mutation|March 25, 2009
Genetic and epigenetic analysis of recurrent hydatidiform moleBruce E Hayward, Michel De Vos, Nargese Talati, et al.Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.Nature Communications|December 11, 2021
Fine-scale population structure and demographic history of British PakistanisElena Arciero, Sufyan A Dogra, Daniel S Malawsky, et al.Blood|November 10, 2010
MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemiaFay J Hosking, Stephen Leslie, Alexander Dilthey, 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.Investigative Ophthalmology & Visual Science|February 17, 2009
Replication of the recessive STBMS1 locus but with dominant inheritanceAine Rice, Jérémie Nsengimana, Ian G Simmons, et al.Pageof 8