Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Mireille Cossée

Showing results (1-10 of 59) with videos related to

Pageof 6
Sort By:
Medecine Sciences : M/S|November 16, 2017
[Towards a national standardisation of NGS studies in the diagnosis of myopathies]Martin Krahn, Mathieu Cerino, Emmanuelle Campana-Salort, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
Archives of Dermatology|September 13, 2002
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasiaMarie-Claire Vincent, Mireille Cossée, Pierre Vabres, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterizationSophie Monnot, Fabienne Giuliano, Christophe Massol, et al.
The Journal of Molecular Diagnostics : JMD|July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of DystrophinopathiesMelissa Alame, Delphine Lacourt, Reda Zenagui, et al.
Medecine Sciences : M/S|November 18, 2024
[The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies]Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
Cellular and Molecular Life Sciences : CMLS|March 21, 2024
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiationDylan Da Cunha, Julie Miro, Charles Van Goethem, et al.
Clinical Immunology (Orlando, Fla.)|July 8, 2024
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutationBenedicte Alary, Pascal Cintas, Corentin Claude, et al.
Cerebellum (London, England)|July 26, 2003
Iron metabolism in mice with partial frataxin deficiencyManuela M Santos, Carlos J Miranda, Joanne E Levy, et al.
Pageof 6

Showing results (1-10 of 59) with videos related to

Sort By:
Pageof 6
Medecine Sciences : M/S|November 16, 2017
[Towards a national standardisation of NGS studies in the diagnosis of myopathies]Martin Krahn, Mathieu Cerino, Emmanuelle Campana-Salort, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
Archives of Dermatology|September 13, 2002
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasiaMarie-Claire Vincent, Mireille Cossée, Pierre Vabres, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterizationSophie Monnot, Fabienne Giuliano, Christophe Massol, et al.
The Journal of Molecular Diagnostics : JMD|July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of DystrophinopathiesMelissa Alame, Delphine Lacourt, Reda Zenagui, et al.
Medecine Sciences : M/S|November 18, 2024
[The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies]Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
Cellular and Molecular Life Sciences : CMLS|March 21, 2024
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiationDylan Da Cunha, Julie Miro, Charles Van Goethem, et al.
Clinical Immunology (Orlando, Fla.)|July 8, 2024
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutationBenedicte Alary, Pascal Cintas, Corentin Claude, et al.
Cerebellum (London, England)|July 26, 2003
Iron metabolism in mice with partial frataxin deficiencyManuela M Santos, Carlos J Miranda, Joanne E Levy, et al.
Pageof 6