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Thomy de Ravel

Showing results (61-70 of 72) with videos related to

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Heart Rhythm|August 19, 2024
Correlations of ventricular fibrillation and monomorphic ventricular tachycardia with SCN5A mutations and other clinical variables in Brugada syndromeLuigi Pannone, Antonio Bisignani, Randy Osei, 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|April 16, 2023
Genetic testing in children with Brugada syndrome: results from a large prospective registryLuigi Pannone, Antonio Bisignani, Randy Osei, et al.
JACC. Clinical Electrophysiology|May 25, 2023
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter StudyLuigi Pannone, Anaïs Gauthey, Giulio Conte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Heart Rhythm|August 19, 2024
Correlations of ventricular fibrillation and monomorphic ventricular tachycardia with SCN5A mutations and other clinical variables in Brugada syndromeLuigi Pannone, Antonio Bisignani, Randy Osei, 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|April 16, 2023
Genetic testing in children with Brugada syndrome: results from a large prospective registryLuigi Pannone, Antonio Bisignani, Randy Osei, et al.
JACC. Clinical Electrophysiology|May 25, 2023
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter StudyLuigi Pannone, Anaïs Gauthey, Giulio Conte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Pageof 8