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

Elena Parrini

Showing results (61-70 of 82) with videos related to

Pageof 9
Sort By:
American Journal of Medical Genetics. Part A|November 18, 2020
The spectrum of brain malformations and disruptions in twinsKaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Neurology|March 31, 2026
Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group CohortCarla Marini, Anna Rosati, Lucia Fusco, et al.
Epilepsia|October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiologySimona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, 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.
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.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|November 18, 2020
The spectrum of brain malformations and disruptions in twinsKaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Neurology|March 31, 2026
Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group CohortCarla Marini, Anna Rosati, Lucia Fusco, et al.
Epilepsia|October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiologySimona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, 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.
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.
Pageof 9