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Thomy de Ravel

Showing results (51-60 of 72) with videos related to

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Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|January 16, 2023
Heart rate variability and microvolt T wave alternans changes during ajmaline test may predict prognosis in Brugada syndromePaul-Adrian Călburean, Luigi Pannone, Antonio Sorgente, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
Heart Rhythm|February 6, 2022
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mappingLuigi Pannone, Cinzia Monaco, Antonio Sorgente, et al.
JACC. Clinical Electrophysiology|August 11, 2023
Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG ImagingAntonio Bisignani, Luigi Pannone, Alvise Del Monte, et al.
Circulation. Arrhythmia and Electrophysiology|December 3, 2024
In Vivo Mapping of Human Ventricular Fibrillation in Brugada Syndrome: The Role of Repolarization HeterogeneityLuigi Pannone, Domenico Giovanni Della Rocca, Pasquale Vergara, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Circulation. Arrhythmia and Electrophysiology|March 1, 2024
Genetic Testing in Brugada Syndrome: A 30-Year ExperienceLuigi Pannone, Antonio Bisignani, Randy Osei, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|January 16, 2023
Heart rate variability and microvolt T wave alternans changes during ajmaline test may predict prognosis in Brugada syndromePaul-Adrian Călburean, Luigi Pannone, Antonio Sorgente, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
Heart Rhythm|February 6, 2022
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mappingLuigi Pannone, Cinzia Monaco, Antonio Sorgente, et al.
JACC. Clinical Electrophysiology|August 11, 2023
Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG ImagingAntonio Bisignani, Luigi Pannone, Alvise Del Monte, et al.
Circulation. Arrhythmia and Electrophysiology|December 3, 2024
In Vivo Mapping of Human Ventricular Fibrillation in Brugada Syndrome: The Role of Repolarization HeterogeneityLuigi Pannone, Domenico Giovanni Della Rocca, Pasquale Vergara, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Circulation. Arrhythmia and Electrophysiology|March 1, 2024
Genetic Testing in Brugada Syndrome: A 30-Year ExperienceLuigi Pannone, Antonio Bisignani, Randy Osei, et al.
Pageof 8