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William O Pickrell

Showing results (11-20 of 19) with videos related to

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Neurobiology of Disease|May 5, 2026
A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patternsAdam T Higgins, Fiona Wang, William O Pickrell, et al.
Journal of Biomedical Semantics|September 14, 2024
Annotation of epilepsy clinic letters for natural language processingBeata Fonferko-Shadrach, Huw Strafford, Carys Jones, et al.
Epilepsia|August 29, 2023
Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage studyBeata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, et al.
Neurobiology of Disease|January 11, 2014
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypesAnn J Johnston, Jing-Qiong Kang, Wangzhen Shen, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Neurobiology of Disease|May 5, 2026
A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patternsAdam T Higgins, Fiona Wang, William O Pickrell, et al.
Journal of Biomedical Semantics|September 14, 2024
Annotation of epilepsy clinic letters for natural language processingBeata Fonferko-Shadrach, Huw Strafford, Carys Jones, et al.
Epilepsia|August 29, 2023
Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage studyBeata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, et al.
Neurobiology of Disease|January 11, 2014
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypesAnn J Johnston, Jing-Qiong Kang, Wangzhen Shen, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 2