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Mark F Bennett

Showing results (11-20 of 56) with videos related to

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Epilepsia|June 7, 2024
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?Emma Young, Rebekah Harris, Nico Lieffering, et al.
Epilepsia|November 18, 2020
Transcriptome analysis of a ring chromosome 20 patient cohortKenneth A Myers, Mark F Bennett, Michael S Hildebrand, et al.
NAR Genomics and Bioinformatics|April 7, 2025
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array dataErandee Robertson, Bronwyn E Grinton, Karen L Oliver, et al.
Epilepsia Open|December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case reportDenis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Genetics in Medicine Open|December 13, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or <i>PIK3CA</i>-related overgrowth spectrumTimothy E Green, Denisse Garza, Natasha J Brown, et al.
Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Neurology|October 3, 2022
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth ElectrodesZimeng Ye, Mark F Bennett, Andrew Neal, et al.
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Pageof 6

Showing results (11-20 of 56) with videos related to

Sort By:
Pageof 6
Epilepsia|June 7, 2024
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?Emma Young, Rebekah Harris, Nico Lieffering, et al.
Epilepsia|November 18, 2020
Transcriptome analysis of a ring chromosome 20 patient cohortKenneth A Myers, Mark F Bennett, Michael S Hildebrand, et al.
NAR Genomics and Bioinformatics|April 7, 2025
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array dataErandee Robertson, Bronwyn E Grinton, Karen L Oliver, et al.
Epilepsia Open|December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case reportDenis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Genetics in Medicine Open|December 13, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or <i>PIK3CA</i>-related overgrowth spectrumTimothy E Green, Denisse Garza, Natasha J Brown, et al.
Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Neurology|October 3, 2022
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth ElectrodesZimeng Ye, Mark F Bennett, Andrew Neal, et al.
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Pageof 6