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Cyril Mignot

Showing results (51-60 of 236) with videos related to

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Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
Neurology|June 30, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret, David Grabli, Christel Depienne, et al.
Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disordersCaroline Nava, Boris Keren, Cyril Mignot, et al.
Journal of Medical Genetics|October 19, 2023
Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosisSolveig Heide, Emanuela Argilli, Stéphanie Valence, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
Pageof 24

Showing results (51-60 of 236) with videos related to

Sort By:
Pageof 24
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
Neurology|June 30, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret, David Grabli, Christel Depienne, et al.
Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disordersCaroline Nava, Boris Keren, Cyril Mignot, et al.
Journal of Medical Genetics|October 19, 2023
Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosisSolveig Heide, Emanuela Argilli, Stéphanie Valence, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
Pageof 24