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Thomas Besnard

Showing results (21-30 of 72) with videos related to

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Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Acta Neuropathologica|October 5, 2020
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndromeÀngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
Pageof 8

Showing results (21-30 of 72) with videos related to

Sort By:
Pageof 8
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Acta Neuropathologica|October 5, 2020
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndromeÀngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
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