Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ingrid E Scheffer

Showing results (351-360 of 586) with videos related to

Pageof 59
Sort By:
Neurology|April 17, 2013
Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, et al.
Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Annals of Neurology|December 26, 2015
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyRichard D Bagnall, Douglas E Crompton, Slavé Petrovski, et al.
Pediatric Neurology|November 11, 2023
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for DiagnosisZimeng Ye, Sufang Lin, Xia Zhao, et al.
Developmental Medicine and Child Neurology|November 21, 2012
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsyAndreas Brunklaus, Liam Dorris, Rachael Ellis, et al.
Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.
Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.
Annals of Neurology|March 30, 2004
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel F Berkovic, Sarah E Heron, Lucio Giordano, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Pageof 59

Showing results (351-360 of 586) with videos related to

Sort By:
Pageof 59
Neurology|April 17, 2013
Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, et al.
Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Annals of Neurology|December 26, 2015
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyRichard D Bagnall, Douglas E Crompton, Slavé Petrovski, et al.
Pediatric Neurology|November 11, 2023
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for DiagnosisZimeng Ye, Sufang Lin, Xia Zhao, et al.
Developmental Medicine and Child Neurology|November 21, 2012
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsyAndreas Brunklaus, Liam Dorris, Rachael Ellis, et al.
Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.
Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.
Annals of Neurology|March 30, 2004
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel F Berkovic, Sarah E Heron, Lucio Giordano, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Pageof 59