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Richard Redon

Showing results (91-100 of 131) with videos related to

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Journal of the American Heart Association|September 15, 2016
Variants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesNobue Yagihara, Hiroshi Watanabe, Phil Barnett, et al.
European Heart Journal|May 23, 2019
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndromeNadjet Belbachir, Vincent Portero, Zeina R Al Sayed, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Cardiovascular Research|February 19, 2015
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative studyElijah R Behr, Eleonora Savio-Galimberti, Julien Barc, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
European Heart Journal|May 15, 2024
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk lociTaisuke Ishikawa, Tatsuo Masuda, Tsuyoshi Hachiya, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature Genetics|August 25, 2015
Genetic association analyses highlight biological pathways underlying mitral valve prolapseChristian Dina, Nabila Bouatia-Naji, Nathan Tucker, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|May 11, 2026
Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel diseaseMichael W T Tanck, Yanushi D Wijeyeratne, Julien Barc, et al.
Pageof 14

Showing results (91-100 of 131) with videos related to

Sort By:
Pageof 14
Journal of the American Heart Association|September 15, 2016
Variants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesNobue Yagihara, Hiroshi Watanabe, Phil Barnett, et al.
European Heart Journal|May 23, 2019
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndromeNadjet Belbachir, Vincent Portero, Zeina R Al Sayed, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Cardiovascular Research|February 19, 2015
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative studyElijah R Behr, Eleonora Savio-Galimberti, Julien Barc, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
European Heart Journal|May 15, 2024
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk lociTaisuke Ishikawa, Tatsuo Masuda, Tsuyoshi Hachiya, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature Genetics|August 25, 2015
Genetic association analyses highlight biological pathways underlying mitral valve prolapseChristian Dina, Nabila Bouatia-Naji, Nathan Tucker, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|May 11, 2026
Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel diseaseMichael W T Tanck, Yanushi D Wijeyeratne, Julien Barc, et al.
Pageof 14