Search research articles
Contact Us
Filters
Showing results (81-90 of 110) with videos related to
Page
of 11
Sort By:
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Simona Balestrini, Daniela Chiarello, Maria Gogou, et al.
Human Genetics
|
July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2
Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Epilepsia
|
October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, et al.
Epilepsia
|
May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Shan Tang, Laura Addis, Anna Smith, 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 study
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Journal of Medical Genetics
|
November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Davide Mei, Simona Balestrini, Elena Parrini, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Epilepsia
|
March 16, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsy
Valentina Cetica, Tiziana Pisano, Gaetan Lesca, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 110) with videos related to
Sort By:
Page
of 11
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Simona Balestrini, Daniela Chiarello, Maria Gogou, et al.
Human Genetics
|
July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2
Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Epilepsia
|
October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, et al.
Epilepsia
|
May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Shan Tang, Laura Addis, Anna Smith, 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 study
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Journal of Medical Genetics
|
November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Davide Mei, Simona Balestrini, Elena Parrini, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Epilepsia
|
March 16, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsy
Valentina Cetica, Tiziana Pisano, Gaetan Lesca, et al.
Page
of 11