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Showing results (251-260 of 353) with videos related to

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Epilepsia|March 31, 2018
SCN1A variants associated with sudden infant death syndromeCatherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Annals of Neurology|January 21, 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasiaAlissa M D'Gama, Ying Geng, Javier A Couto, et al.
Brain : a Journal of Neurology|November 20, 2016
De novo GABRG2 mutations associated with epileptic encephalopathiesDingding Shen, Ciria C Hernandez, Wangzhen Shen, et al.
Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
Annals of Neurology|June 18, 2019
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishmentsSteven U Walkley, Leonard Abbeduto, Mark L Batshaw, et al.
American Journal of Human Genetics|August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in <i>PIK3CA</i> Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Pageof 36

Showing results (251-260 of 353) with videos related to

Sort By:
Pageof 36
Epilepsia|March 31, 2018
SCN1A variants associated with sudden infant death syndromeCatherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Annals of Neurology|January 21, 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasiaAlissa M D'Gama, Ying Geng, Javier A Couto, et al.
Brain : a Journal of Neurology|November 20, 2016
De novo GABRG2 mutations associated with epileptic encephalopathiesDingding Shen, Ciria C Hernandez, Wangzhen Shen, et al.
Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
Annals of Neurology|June 18, 2019
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishmentsSteven U Walkley, Leonard Abbeduto, Mark L Batshaw, et al.
American Journal of Human Genetics|August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in <i>PIK3CA</i> Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Pageof 36