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Ulvi Vaher

Showing results (11-20 of 19) with videos related to

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Journal of Child Neurology|December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disordersUlvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Journal of Child Neurology|June 5, 2018
Incidence of Childhood Epilepsy in EstoniaKadi Veri, Inga Talvik, Ulvi Vaher, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyKarit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, 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.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
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|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.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Journal of Child Neurology|December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disordersUlvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Journal of Child Neurology|June 5, 2018
Incidence of Childhood Epilepsy in EstoniaKadi Veri, Inga Talvik, Ulvi Vaher, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyKarit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, 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.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
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|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.
Pageof 2