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Ingrid E Scheffer

Showing results (271-280 of 586) with videos related to

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Journal of Paediatrics and Child Health|April 25, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case seriesAlexandra M Johnson, Simone Mandelstam, Ian Andrews, et al.
European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.
Epilepsia|June 23, 2011
A retrospective population-based study on seizures related to childhood vaccinationSarah von Spiczak, Ingo Helbig, Ursula Drechsel-Baeuerle, et al.
Archives of Neurology|April 12, 2012
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locusDouglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyLisa J Ewans, Michael Field, Ying Zhu, et al.
Epilepsia Open|October 30, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotypeGuillem de Valles-Ibáñez, Michael S Hildebrand, Melanie Bahlo, et al.
Archives of Neurology|May 11, 2011
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsySaul A Mullen, Carla Marini, Arvid Suls, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 22, 2023
Retinal Dysfunction in a Mouse Model of HCN1 Genetic EpilepsyDa Zhao, Paulo Pinares-Garcia, Chaseley E McKenzie, et al.
Neurology|November 2, 2022
Complications of Influenza A or B Virus Infection in Individuals With <i>SCN1A</i>-Positive Dravet SyndromeKatherine B Howell, Sophie Butcher, Amy L Schneider, et al.
Epilepsy Research|November 28, 2012
Do mutations in SCN1B cause Dravet syndrome?Young Ok Kim, Leanne Dibbens, Carla Marini, et al.
Pageof 59

Showing results (271-280 of 586) with videos related to

Sort By:
Pageof 59
Journal of Paediatrics and Child Health|April 25, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case seriesAlexandra M Johnson, Simone Mandelstam, Ian Andrews, et al.
European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.
Epilepsia|June 23, 2011
A retrospective population-based study on seizures related to childhood vaccinationSarah von Spiczak, Ingo Helbig, Ursula Drechsel-Baeuerle, et al.
Archives of Neurology|April 12, 2012
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locusDouglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyLisa J Ewans, Michael Field, Ying Zhu, et al.
Epilepsia Open|October 30, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotypeGuillem de Valles-Ibáñez, Michael S Hildebrand, Melanie Bahlo, et al.
Archives of Neurology|May 11, 2011
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsySaul A Mullen, Carla Marini, Arvid Suls, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 22, 2023
Retinal Dysfunction in a Mouse Model of HCN1 Genetic EpilepsyDa Zhao, Paulo Pinares-Garcia, Chaseley E McKenzie, et al.
Neurology|November 2, 2022
Complications of Influenza A or B Virus Infection in Individuals With <i>SCN1A</i>-Positive Dravet SyndromeKatherine B Howell, Sophie Butcher, Amy L Schneider, et al.
Epilepsy Research|November 28, 2012
Do mutations in SCN1B cause Dravet syndrome?Young Ok Kim, Leanne Dibbens, Carla Marini, et al.
Pageof 59