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Showing results (241-250 of 353) with videos related to

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Annals of Neurology|December 16, 2020
Characterization of the GABRB2-Associated Neurodevelopmental DisordersChristelle M El Achkar, Merle Harrer, Lacey Smith, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Annals of Clinical and Translational Neurology|May 7, 2024
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndromeShyam K Akula, Vicente Quiroz, Alissa M D'Gama, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Plos Genetics|November 30, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutationsXiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, et al.
Annals of the Child Neurology Society|August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic EncephalopathyE Naomi Vos, Didem Demirbas, Lance Rodan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
Advanced Genetics (Hoboken, N.J.)|March 13, 2023
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of AgeCatherine A Brownstein, Elise Douard, Robin L Haynes, et al.
American Journal of Human Genetics|July 24, 2024
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorderJihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, et al.
Epilepsia|July 30, 2014
Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experienceSigride Thome-Souza, Navah E Kadish, Sriram Ramgopal, et al.
Pageof 36

Showing results (241-250 of 353) with videos related to

Sort By:
Pageof 36
Annals of Neurology|December 16, 2020
Characterization of the GABRB2-Associated Neurodevelopmental DisordersChristelle M El Achkar, Merle Harrer, Lacey Smith, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Annals of Clinical and Translational Neurology|May 7, 2024
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndromeShyam K Akula, Vicente Quiroz, Alissa M D'Gama, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Plos Genetics|November 30, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutationsXiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, et al.
Annals of the Child Neurology Society|August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic EncephalopathyE Naomi Vos, Didem Demirbas, Lance Rodan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
Advanced Genetics (Hoboken, N.J.)|March 13, 2023
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of AgeCatherine A Brownstein, Elise Douard, Robin L Haynes, et al.
American Journal of Human Genetics|July 24, 2024
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorderJihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, et al.
Epilepsia|July 30, 2014
Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experienceSigride Thome-Souza, Navah E Kadish, Sriram Ramgopal, et al.
Pageof 36