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Cyril Goizet

Showing results (161-170 of 173) with videos related to

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Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, 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.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
Brain : a Journal of Neurology|December 21, 2014
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patientsXavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Pageof 18

Showing results (161-170 of 173) with videos related to

Sort By:
Pageof 18
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, 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.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
Brain : a Journal of Neurology|December 21, 2014
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patientsXavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Pageof 18