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Nature Genetics|October 6, 2009
T (brachyury) gene duplication confers major susceptibility to familial chordomaXiaohong R Yang, David Ng, David A Alcorta, et al.Genomics|May 31, 2011
Illuminator, a desktop program for mutation detection using short-read clonal sequencingIan M Carr, Joanne E Morgan, Christine P Diggle, et al.Lancet (London, England)|July 9, 2013
Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford studyEamonn Sheridan, John Wright, Neil Small, et al.Journal of Medical Genetics|January 7, 2016
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesiaChristopher M Watson, Laura A Crinnion, Helen Murphy, et al.American Journal of Human Genetics|March 9, 2010
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Peter Green, Matthew Wiseman, Yanick J Crow, et al.European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.Biology|June 26, 2025
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing DataChristopher M Watson, Carolina Lascelles, Morag Raynor, et al.Neuropediatrics|December 19, 2017
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander DiseaseLydia Green, Ian R Berry, Anne-Marie Childs, et al.Human Mutation|February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencingJoanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.Molecular Vision|November 7, 2013
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1Musallam Al-Araimi, Bishwanath Pal, James A Poulter, et al.Pageof 8