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Michel Koenig

Showing results (111-120 of 126) with videos related to

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Human Mutation|August 17, 2016
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.
Journal of Medical Genetics|November 7, 2023
Titin copy number variations associated with dominant inherited phenotypesAurélien Perrin, Corinne Métay, Marco Savarese, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Science Advances|June 21, 2017
Dynamic fracture of tantalum under extreme tensile stressBruno Albertazzi, Norimasa Ozaki, Vasily Zhakhovsky, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Science Advances|March 9, 2022
Strong suppression of heat conduction in a laboratory replica of galaxy-cluster turbulent plasmasJena Meinecke, Petros Tzeferacos, James S Ross, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Pageof 13

Showing results (111-120 of 126) with videos related to

Sort By:
Pageof 13
Human Mutation|August 17, 2016
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.
Journal of Medical Genetics|November 7, 2023
Titin copy number variations associated with dominant inherited phenotypesAurélien Perrin, Corinne Métay, Marco Savarese, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Science Advances|June 21, 2017
Dynamic fracture of tantalum under extreme tensile stressBruno Albertazzi, Norimasa Ozaki, Vasily Zhakhovsky, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Science Advances|March 9, 2022
Strong suppression of heat conduction in a laboratory replica of galaxy-cluster turbulent plasmasJena Meinecke, Petros Tzeferacos, James S Ross, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Pageof 13