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Showing results (141-150 of 270) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|May 22, 2023
Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
Molecular Psychiatry|July 14, 2026
Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorderAlex J Felix, Brandon L Brown, Nicolas Marotta, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Ebiomedicine|May 31, 2022
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L Oliver, Colin A Ellis, Ingrid E Scheffer, et al.
Communications Biology|September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneuronsChad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Cell Stem Cell|November 4, 2022
A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespanYijing Su, Yi Zhou, Mariko L Bennett, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Pageof 27

Showing results (141-150 of 270) with videos related to

Sort By:
Pageof 27
Medrxiv : the Preprint Server for Health Sciences|May 22, 2023
Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
Molecular Psychiatry|July 14, 2026
Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorderAlex J Felix, Brandon L Brown, Nicolas Marotta, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Ebiomedicine|May 31, 2022
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L Oliver, Colin A Ellis, Ingrid E Scheffer, et al.
Communications Biology|September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneuronsChad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Cell Stem Cell|November 4, 2022
A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespanYijing Su, Yi Zhou, Mariko L Bennett, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Pageof 27