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Thomas Besnard

Showing results (41-50 of 72) with videos related to

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American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
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