Showing results (151-160 of 176) with videos related to
Sort By:
Pageof 18
American Journal of Human Genetics|January 25, 2003
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathyKristien Verhoeven, Peter De Jonghe, Katrien Coen, et al.Nature Neuroscience|November 8, 2016
A viral strategy for targeting and manipulating interneurons across vertebrate speciesJordane Dimidschstein, Qian Chen, Robin Tremblay, et al.Resuscitation|March 19, 2018
Out-of-hospital cardiac arrest survival in international airportsSiobhán Masterson, Bryan McNally, John Cullinan, et al.American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.American Journal of Human Genetics|December 31, 2004
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationKenneth E White, Jose M Cabral, Siobhan I Davis, et al.Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.British Journal of Cancer|December 9, 2022
Efficacy and toxicity of primary re-irradiation for malignant spinal cord compression based on radiobiological modelling: a phase II clinical trialNeil D Wallace, Mary T Dunne, Orla McArdle, et al.American Journal of Medical Genetics. Part A|August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndromeAida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.Pageof 18