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Journal of Neurology|December 28, 2012
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestryRichard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, et al.Heart Rhythm|March 30, 2021
Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionalsLieke M van den Heuvel, Judy Do, Laura Yeates, et al.Resuscitation|February 26, 2019
Relationship between socioeconomic factors, distribution of public access defibrillators and incidence of out-of-hospital cardiac arrestBridget Dicker, Nick Garrett, Samuel Wong, et al.Journal of the American College of Cardiology|April 29, 2017
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death SyndromeNajim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, et al.European Journal of Human Genetics : EJHG|September 20, 2019
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsyNajim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, et al.Journal of Inherited Metabolic Disease|October 27, 2015
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie C Jacobsen, Callum Wilson, Vicki Cunningham, et al.Oncotarget|December 20, 2017
Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry testPhillip Shepherd, Karen L Sheath, Sandar Tin Tin, et al.Journal of Cardiovascular Electrophysiology|June 4, 2009
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotypeJing Ting Zhao, Adam P Hill, Anthony Varghese, et al.Heart Rhythm|October 2, 2007
Long QT and Brugada syndrome gene mutations in New ZealandSeo-Kyung Chung, Judith M MacCormick, Caroline H McCulley, et al.Microarrays (Basel, Switzerland)|September 8, 2016
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, et al.Pageof 19