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B Howell

Showing results (591-600 of 615) with videos related to

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Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Science (New York, N.Y.)|August 28, 2010
Kepler-9: a system of multiple planets transiting a Sun-like star, confirmed by timing variationsMatthew J Holman, Daniel C Fabrycky, Darin Ragozzine, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Nature|January 13, 2012
Transiting circumbinary planets Kepler-34 b and Kepler-35 bWilliam F Welsh, Jerome A Orosz, Joshua A Carter, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Science (New York, N.Y.)|September 17, 2011
Kepler-16: a transiting circumbinary planetLaurance R Doyle, Joshua A Carter, Daniel C Fabrycky, et al.
Neurology|July 22, 2025
Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related DisordersBeatrice Southby Goad, Jill Rodda, Meagan Allen, et al.
Pageof 62

Showing results (591-600 of 615) with videos related to

Sort By:
Pageof 62
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Science (New York, N.Y.)|August 28, 2010
Kepler-9: a system of multiple planets transiting a Sun-like star, confirmed by timing variationsMatthew J Holman, Daniel C Fabrycky, Darin Ragozzine, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Nature|January 13, 2012
Transiting circumbinary planets Kepler-34 b and Kepler-35 bWilliam F Welsh, Jerome A Orosz, Joshua A Carter, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Science (New York, N.Y.)|September 17, 2011
Kepler-16: a transiting circumbinary planetLaurance R Doyle, Joshua A Carter, Daniel C Fabrycky, et al.
Neurology|July 22, 2025
Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related DisordersBeatrice Southby Goad, Jill Rodda, Meagan Allen, et al.
Pageof 62