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Jamel Chelly

Showing results (211-220 of 226) with videos related to

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Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|December 28, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Pageof 23

Showing results (211-220 of 226) with videos related to

Sort By:
Pageof 23
Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|December 28, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Pageof 23