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

Cyril Goizet

Showing results (131-140 of 173) with videos related to

Pageof 18
Sort By:
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
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 Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.
Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Pageof 18

Showing results (131-140 of 173) with videos related to

Sort By:
Pageof 18
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
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 Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.
Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Pageof 18