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Alexandre Janin

Showing results (11-20 of 43) with videos related to

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European Journal of Medical Genetics|August 25, 2018
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndromeAlexandre Janin, Francis Bessière, Tudor Georgescu, et al.
The Journal of Physiology|December 4, 2025
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromesAntoine Delinière, Thomas Boulin, Maëlle Jospin, et al.
Genes|February 27, 2026
Characterisation of a Missense Variant of the <i>Alström Syndrome Centrosome and Basal Body Associated Protein</i> (<i>ALMS1</i>) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem CellsTanushri Dargar, Alexandre Janin, Valérie Risson, et al.
American Journal of Human Genetics|January 24, 2018
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu ExonizationYohann Jourdy, Alexandre Janin, Mathilde Fretigny, et al.
Gene|December 12, 2023
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndromeAntoine Delinière, Laureen Jaupart, Alexandre Janin, et al.
DNA and Cell Biology|January 25, 2021
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?Louis Januel, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.
Clinical Chemistry and Laboratory Medicine|May 19, 2026
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive <i>TTR</i> genetic testing for hereditary transthyretin amyloidosisGilles Millat, Kahia Messaoudi, Valérie Chanavat, et al.
Circulation|September 24, 2024
Circulating Autoantibodies Targeting TREK-1 in Patients With Short-Coupled Ventricular FibrillationJin Li, Alexandre Janin, Mona Patoughi, et al.
Atherosclerosis|May 14, 2025
Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemiaZoé Henry, Alexandre Janin, Séverine Nony, et al.
Genes|February 24, 2024
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case ReportZangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, et al.
Pageof 5

Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|August 25, 2018
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndromeAlexandre Janin, Francis Bessière, Tudor Georgescu, et al.
The Journal of Physiology|December 4, 2025
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromesAntoine Delinière, Thomas Boulin, Maëlle Jospin, et al.
Genes|February 27, 2026
Characterisation of a Missense Variant of the <i>Alström Syndrome Centrosome and Basal Body Associated Protein</i> (<i>ALMS1</i>) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem CellsTanushri Dargar, Alexandre Janin, Valérie Risson, et al.
American Journal of Human Genetics|January 24, 2018
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu ExonizationYohann Jourdy, Alexandre Janin, Mathilde Fretigny, et al.
Gene|December 12, 2023
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndromeAntoine Delinière, Laureen Jaupart, Alexandre Janin, et al.
DNA and Cell Biology|January 25, 2021
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?Louis Januel, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.
Clinical Chemistry and Laboratory Medicine|May 19, 2026
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive <i>TTR</i> genetic testing for hereditary transthyretin amyloidosisGilles Millat, Kahia Messaoudi, Valérie Chanavat, et al.
Circulation|September 24, 2024
Circulating Autoantibodies Targeting TREK-1 in Patients With Short-Coupled Ventricular FibrillationJin Li, Alexandre Janin, Mona Patoughi, et al.
Atherosclerosis|May 14, 2025
Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemiaZoé Henry, Alexandre Janin, Séverine Nony, et al.
Genes|February 24, 2024
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case ReportZangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, et al.
Pageof 5