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Cyril Mignot

Showing results (151-160 of 216) with videos related to

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Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
European Journal of Neurology|August 8, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic DiagnosisJean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Pageof 22

Showing results (151-160 of 216) with videos related to

Sort By:
Pageof 22
Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
European Journal of Neurology|August 8, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic DiagnosisJean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Pageof 22