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Michel Koenig

Showing results (21-30 of 126) with videos related to

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Movement Disorders Clinical Practice|October 27, 2018
The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2Florian Brugger, Michael Schüpbach, Michel Koenig, et al.
BMC Neurology|August 26, 2009
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screenNadège Calmels, Hervé Seznec, Pascal Villa, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 15, 2018
The genetic nomenclature of recessive cerebellar ataxiasMalco Rossi, Mathieu Anheim, Alexandra Durr, et al.
International Journal of Molecular Sciences|October 24, 2020
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin GeneJulie Miro, Anne-Laure Bougé, Eva Murauer, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, David Baux, et al.
Nature Materials|March 27, 2007
Laser-shock compression of diamond and evidence of a negative-slope melting curveStéphanie Brygoo, Emeric Henry, Paul Loubeyre, et al.
European Journal of Human Genetics : EJHG|December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing lossChristel Vaché, David Baux, Julie Bianchi, et al.
Movement Disorders Clinical Practice|February 5, 2019
Cerebral Iron Accumulation Is Not a Major Feature of <i>FA2H</i>/SPG35Cecilia Marelli, Mustafa A Salih, Karine Nguyen, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variantsAnne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, et al.
Pageof 13

Showing results (21-30 of 126) with videos related to

Sort By:
Pageof 13
Movement Disorders Clinical Practice|October 27, 2018
The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2Florian Brugger, Michael Schüpbach, Michel Koenig, et al.
BMC Neurology|August 26, 2009
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screenNadège Calmels, Hervé Seznec, Pascal Villa, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 15, 2018
The genetic nomenclature of recessive cerebellar ataxiasMalco Rossi, Mathieu Anheim, Alexandra Durr, et al.
International Journal of Molecular Sciences|October 24, 2020
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin GeneJulie Miro, Anne-Laure Bougé, Eva Murauer, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, David Baux, et al.
Nature Materials|March 27, 2007
Laser-shock compression of diamond and evidence of a negative-slope melting curveStéphanie Brygoo, Emeric Henry, Paul Loubeyre, et al.
European Journal of Human Genetics : EJHG|December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing lossChristel Vaché, David Baux, Julie Bianchi, et al.
Movement Disorders Clinical Practice|February 5, 2019
Cerebral Iron Accumulation Is Not a Major Feature of <i>FA2H</i>/SPG35Cecilia Marelli, Mustafa A Salih, Karine Nguyen, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variantsAnne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, et al.
Pageof 13