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European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.
Circulation Research|April 10, 2010
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyAdam J Saltzman, Debora Mancini-DiNardo, Chumei Li, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 19, 2018
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta PhenotypeTim Cundy, Michael Dray, John Delahunt, et al.
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Journal of Medical Genetics|April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani, Chad Shaw, Xueqing Wang, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
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