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American Journal of Human Genetics|November 29, 2002
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaWilliam A Paznekas, Simeon A Boyadjiev, Robert E Shapiro, et al.Cardiovascular Research|July 15, 2010
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissectionsSakiko Inamoto, Callie S Kwartler, Andrea L Lafont, et al.Journal of Clinical Immunology|December 20, 2019
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related DiseasesTaylor Novice, Amina Kariminia, Kate L Del Bel, et al.Pediatric Research|October 17, 2019
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencingMark N Ziats, Ayesha Ahmad, John A Bernat, et al.Human Molecular Genetics|January 14, 2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan L Landsverk, Elizabeth K Ruzzo, Heather C Mefford, et al.Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.Pediatric Research|September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott, Michael C Bressan, Jie He, et al.Nature Genetics|September 28, 2005
Mutations in SEPT9 cause hereditary neuralgic amyotrophyGregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, et al.Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.Pageof 3