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Ingrid E Scheffer

Showing results (481-490 of 586) with videos related to

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Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Human Molecular Genetics|February 25, 2006
SRPX2 mutations in disorders of language cortex and cognitionPatrice Roll, Gabrielle Rudolf, Sandrine Pereira, et al.
Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
Pageof 59

Showing results (481-490 of 586) with videos related to

Sort By:
Pageof 59
Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Human Molecular Genetics|February 25, 2006
SRPX2 mutations in disorders of language cortex and cognitionPatrice Roll, Gabrielle Rudolf, Sandrine Pereira, et al.
Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
Pageof 59