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Bertrand Isidor

Showing results (261-270 of 340) with videos related to

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Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Ebiomedicine|September 13, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineAbdelkader Heddar, Cagri Ogur, Sabrina Da Costa, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.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.
The Journal of Clinical Investigation|June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
Pageof 34

Showing results (261-270 of 340) with videos related to

Sort By:
Pageof 34
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Ebiomedicine|September 13, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineAbdelkader Heddar, Cagri Ogur, Sabrina Da Costa, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, 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.
The Journal of Clinical Investigation|June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
Pageof 34