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R Lemke

Showing results (271-280 of 284) with videos related to

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Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan 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 variantsSebastian 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 disordersMarkus 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 variantsSara 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 aspectsKonrad 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 variantsSara 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 variantsSara 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 phenotypesBerardo 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 ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Pageof 29

Showing results (271-280 of 284) with videos related to

Sort By:
Pageof 29
Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan 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 variantsSebastian 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 disordersMarkus 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 variantsSara 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 aspectsKonrad 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 variantsSara 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 variantsSara 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 phenotypesBerardo 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 ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Pageof 29