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Bertrand Isidor

Showing results (271-280 of 340) with videos related to

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European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, 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.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Pageof 34

Showing results (271-280 of 340) with videos related to

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Pageof 34
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, 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.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Pageof 34