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Ingo Helbig

Showing results (221-230 of 270) with videos related to

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Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
Brain : a Journal of Neurology|October 22, 2009
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesCarolien G F de Kovel, Holger Trucks, Ingo Helbig, et al.
Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.
Nature|January 17, 2025
Brain-wide neuronal circuit connectome of human glioblastomaYusha Sun, Xin Wang, Daniel Y Zhang, et al.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 27

Showing results (221-230 of 270) with videos related to

Sort By:
Pageof 27
Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
Brain : a Journal of Neurology|October 22, 2009
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesCarolien G F de Kovel, Holger Trucks, Ingo Helbig, et al.
Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.
Nature|January 17, 2025
Brain-wide neuronal circuit connectome of human glioblastomaYusha Sun, Xin Wang, Daniel Y Zhang, et al.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 27