Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|October 24, 2007
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in uteroUsha Kini, Rebecca Lee, Alison Jones, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletionsPaul R Mark, Brian C Radlinski, Nathalie Core, et al.
Human Mutation|April 15, 2008
Mutations in the chromatin-associated protein ATRXRichard J Gibbons, Takahito Wada, Christopher A Fisher, et al.
Human Reproduction (Oxford, England)|December 17, 2008
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek Lim, Sarah C Bowdin, Louise Tee, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Investigative Ophthalmology & Visual Science|June 30, 2004
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathyCarmel Toomes, Helen M Bottomley, Sheila Scott, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
American Journal of Human Genetics|December 19, 2012
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexSandra M Pasternack, Melanie Refke, Elham Paknia, et al.
Pageof 5