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Ingo Helbig

Showing results (211-220 of 270) with videos related to

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American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Plos Genetics|May 8, 2015
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesDennis Lal, Ann-Kathrin Ruppert, Holger Trucks, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic DisordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Epilepsia|July 14, 2026
A prospective natural history study protocol for clinical trial readiness in synaptic disordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, 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.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
Pageof 27

Showing results (211-220 of 270) with videos related to

Sort By:
Pageof 27
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Plos Genetics|May 8, 2015
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesDennis Lal, Ann-Kathrin Ruppert, Holger Trucks, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic DisordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Epilepsia|July 14, 2026
A prospective natural history study protocol for clinical trial readiness in synaptic disordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, 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.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
Pageof 27