Showing results (141-150 of 166) with videos related to
Sort By:
Pageof 17
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.American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.Nature Methods|March 2, 2019
Author Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFRJonathan S Marvin, Benjamin Scholl, Daniel E Wilson, et al.Pageof 17