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Alexandre Janin

Showing results (21-30 of 43) with videos related to

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Scientific Reports|April 6, 2018
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cellsAlexandre Janin, Delphine Bauer, Francesca Ratti, et al.
Atherosclerosis|November 9, 2025
Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemiaManon Levy, Alexandre Janin, Oriane Marmontel, et al.
Clinical Cardiology|March 26, 2018
Blockade of the renin-angiotensin-aldosterone system in patients with arrhythmogenic right ventricular dysplasia: A double-blind, multicenter, prospective, randomized, genotype-driven study (BRAVE study)Elodie Morel, Ab Waheed Manati, Patrice Nony, et al.
Frontiers in Endocrinology|September 21, 2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in <i>CYP11A1</i> GeneClaire Goursaud, Delphine Mallet, Alexandre Janin, et al.
Clinical Genetics|November 25, 2024
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia DiagnosisLaurie Surles, Alexandre Janin, Corentin Molitor, et al.
Frontiers in Genetics|December 13, 2021
Characterization of Loss-Of-Function <i>KCNJ2</i> Mutations in Atypical Andersen Tawil SyndromePauline Le Tanno, Mathilde Folacci, Jean Revilloud, et al.
Human Mutation|November 16, 2019
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathyAlexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.
HGG Advances|August 10, 2025
Early onset multivalvular disease caused by a missense variant in lamin A/CAlexandre Janin, Nathalie Gaudreault, Victoria Saavedra Armero, et al.
Clinical Genetics|February 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathyFlavie Ader, Guillaume Jedraszak, Alexandre Janin, et al.
Atherosclerosis|November 13, 2020
PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420GCharlotte Decourt, Alexandre Janin, Marine Moindrot, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Scientific Reports|April 6, 2018
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cellsAlexandre Janin, Delphine Bauer, Francesca Ratti, et al.
Atherosclerosis|November 9, 2025
Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemiaManon Levy, Alexandre Janin, Oriane Marmontel, et al.
Clinical Cardiology|March 26, 2018
Blockade of the renin-angiotensin-aldosterone system in patients with arrhythmogenic right ventricular dysplasia: A double-blind, multicenter, prospective, randomized, genotype-driven study (BRAVE study)Elodie Morel, Ab Waheed Manati, Patrice Nony, et al.
Frontiers in Endocrinology|September 21, 2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in <i>CYP11A1</i> GeneClaire Goursaud, Delphine Mallet, Alexandre Janin, et al.
Clinical Genetics|November 25, 2024
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia DiagnosisLaurie Surles, Alexandre Janin, Corentin Molitor, et al.
Frontiers in Genetics|December 13, 2021
Characterization of Loss-Of-Function <i>KCNJ2</i> Mutations in Atypical Andersen Tawil SyndromePauline Le Tanno, Mathilde Folacci, Jean Revilloud, et al.
Human Mutation|November 16, 2019
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathyAlexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.
HGG Advances|August 10, 2025
Early onset multivalvular disease caused by a missense variant in lamin A/CAlexandre Janin, Nathalie Gaudreault, Victoria Saavedra Armero, et al.
Clinical Genetics|February 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathyFlavie Ader, Guillaume Jedraszak, Alexandre Janin, et al.
Atherosclerosis|November 13, 2020
PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420GCharlotte Decourt, Alexandre Janin, Marine Moindrot, et al.
Pageof 5