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Helle Hjalgrim

Showing results (41-50 of 71) with videos related to

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Epilepsia|January 29, 2013
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsyDennis Lal, Holger Trucks, Rikke S Møller, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Epilepsia|November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndromeJan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
Epilepsia|March 20, 2013
Standardized computer-based organized reporting of EEG: SCORESándor Beniczky, Harald Aurlien, Jan C Brøgger, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Epilepsia|January 29, 2013
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsyDennis Lal, Holger Trucks, Rikke S Møller, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Epilepsia|November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndromeJan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
Epilepsia|March 20, 2013
Standardized computer-based organized reporting of EEG: SCORESándor Beniczky, Harald Aurlien, Jan C Brøgger, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.
Pageof 8