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Inga Talvik

Showing results (41-50 of 51) with videos related to

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Annals of Clinical and Translational Neurology|December 2, 2020
Trait impulsivity in Juvenile Myoclonic EpilepsyAmy Shakeshaft, Naim Panjwani, Robert McDowall, et al.
Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
Molecular Syndromology|October 27, 2016
Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesRikke S Møller, Line H G Larsen, Katrine M Johannesen, et al.
NPJ Genomic Medicine|September 28, 2023
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsyDelnaz Roshandel, Eric J Sanders, Amy Shakeshaft, et al.
American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, 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.
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.
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.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Annals of Clinical and Translational Neurology|December 2, 2020
Trait impulsivity in Juvenile Myoclonic EpilepsyAmy Shakeshaft, Naim Panjwani, Robert McDowall, et al.
Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
Molecular Syndromology|October 27, 2016
Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesRikke S Møller, Line H G Larsen, Katrine M Johannesen, et al.
NPJ Genomic Medicine|September 28, 2023
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsyDelnaz Roshandel, Eric J Sanders, Amy Shakeshaft, et al.
American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, 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.
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.
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.
Pageof 6