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Ingo Helbig

Showing results (161-170 of 270) with videos related to

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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.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, 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.
Neurology|September 2, 2018
The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
Nature|July 6, 2022
Molecular landscapes of human hippocampal immature neurons across lifespanYi Zhou, Yijing Su, Shiying Li, et al.
Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.
Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Pageof 27

Showing results (161-170 of 270) with videos related to

Sort By:
Pageof 27
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.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, 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.
Neurology|September 2, 2018
The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
Nature|July 6, 2022
Molecular landscapes of human hippocampal immature neurons across lifespanYi Zhou, Yijing Su, Shiying Li, et al.
Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.
Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Pageof 27