Search research articles
Contact Us
Filters
Showing results (271-280 of 284) with videos related to
Page
of 29
Sort By:
Nature Genetics
|
August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
Epilepsia
|
February 18, 2022
PIGN encephalopathy: Characterizing the epileptology
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Epilepsia
|
January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Brain : a Journal of Neurology
|
April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Journal of Medical Genetics
|
April 6, 2017
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim, et al.
Page
of 29
Search research articles
Search
Showing results (271-280 of 284) with videos related to
Sort By:
Page
of 29
Nature Genetics
|
August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
Epilepsia
|
February 18, 2022
PIGN encephalopathy: Characterizing the epileptology
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Epilepsia
|
January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Brain : a Journal of Neurology
|
April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Journal of Medical Genetics
|
April 6, 2017
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim, et al.
Page
of 29