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Vincent Michaud

Showing results (71-80 of 84) with videos related to

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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.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
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.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
Pageof 9