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Alexandre Janin

Showing results (31-40 of 43) with videos related to

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International Journal of Molecular Sciences|April 23, 2022
<i>APOB</i> CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel VariantsXavier Vanhoye, Alexandre Janin, Amandine Caillaud, et al.
Molecular Diagnosis & Therapy|July 15, 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic VariantsAlexandre Janin, Thomas Perouse de Montclos, Karine Nguyen, et al.
Atherosclerosis|March 16, 2019
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemiaMathilde Di Filippo, Sophie Collardeau Frachon, Alexandre Janin, et al.
Atherosclerosis|June 11, 2026
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencingLisa Jeanpetit, Corentin Molitor, Alexandre Janin, et al.
Cell Death & Disease|June 17, 2026
NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophyNathalie Couturier, Léa Castellano, Alireza Ghasemizadeh, et al.
European Journal of Medical Genetics|February 11, 2025
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in FranceLea Gaudillat, Lea Patay, Caroline Sawka, et al.
Clinical and Translational Medicine|March 30, 2021
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapyAdrien Moreau, Jean-Baptiste Reisqs, Helene Delanoe-Ayari, et al.
Clinical Genetics|October 28, 2020
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemiaOriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, et al.
EMBO Reports|March 11, 2025
SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrityAlexandre Guiraud, Nathalie Couturier, Emilie Christin, et al.
The Journal of Clinical Endocrinology and Metabolism|August 19, 2025
A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohortClément Janot, Delphine Mallet, Alexandre Janin, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
International Journal of Molecular Sciences|April 23, 2022
<i>APOB</i> CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel VariantsXavier Vanhoye, Alexandre Janin, Amandine Caillaud, et al.
Molecular Diagnosis & Therapy|July 15, 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic VariantsAlexandre Janin, Thomas Perouse de Montclos, Karine Nguyen, et al.
Atherosclerosis|March 16, 2019
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemiaMathilde Di Filippo, Sophie Collardeau Frachon, Alexandre Janin, et al.
Atherosclerosis|June 11, 2026
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencingLisa Jeanpetit, Corentin Molitor, Alexandre Janin, et al.
Cell Death & Disease|June 17, 2026
NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophyNathalie Couturier, Léa Castellano, Alireza Ghasemizadeh, et al.
European Journal of Medical Genetics|February 11, 2025
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in FranceLea Gaudillat, Lea Patay, Caroline Sawka, et al.
Clinical and Translational Medicine|March 30, 2021
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapyAdrien Moreau, Jean-Baptiste Reisqs, Helene Delanoe-Ayari, et al.
Clinical Genetics|October 28, 2020
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemiaOriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, et al.
EMBO Reports|March 11, 2025
SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrityAlexandre Guiraud, Nathalie Couturier, Emilie Christin, et al.
The Journal of Clinical Endocrinology and Metabolism|August 19, 2025
A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohortClément Janot, Delphine Mallet, Alexandre Janin, et al.
Pageof 5