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American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.Journal of Neuromuscular Diseases|January 28, 2020
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) VariantsNatalie Forrester, Rohini Rattihalli, Rita Horvath, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Type 1 collagenopathy presenting with a Russell-Silver phenotypeMichael J Parker, Charulata Deshpande, Julia Rankin, et al.Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.American Journal of Medical Genetics. Part A|February 9, 2019
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityPantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, et al.Journal of the Peripheral Nervous System : JPNS|June 27, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK populationAisling S Carr, James M Polke, Jacob Wilson, et al.BMC Medical Genetics|September 2, 2014
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndromeAimee L Fenwick, Jacqueline A C Goos, Julia Rankin, et al.Journal of Medical Genetics|May 8, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluationLauren M Cairns, Julia Rankin, Asma Hamad, et al.American Journal of Medical Genetics. Part A|August 16, 2022
Expanding the phenotype of TAB2 variants and literature reviewEmily Woods, Imogen Marson, Emanuele Coci, et al.American Journal of Medical Genetics. Part A|May 15, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin, Michaela Auer-Grumbach, Warwick Bagg, et al.Pageof 7