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Jamel Chelly

Showing results (191-200 of 226) with videos related to

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Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.
American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.
Nature Genetics|April 23, 2013
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyKarine Poirier, Nicolas Lebrun, Loic Broix, 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.
Pageof 23

Showing results (191-200 of 226) with videos related to

Sort By:
Pageof 23
Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.
American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.
Nature Genetics|April 23, 2013
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyKarine Poirier, Nicolas Lebrun, Loic Broix, 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.
Pageof 23