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Abigail Collins

Showing results (21-30 of 35) with videos related to

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Molecular Genetics and Metabolism|September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertensionLaura A Adang, David B Frank, Ahmed Gilani, et al.
Orphanet Journal of Rare Diseases|July 14, 2019
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegenerationRandall D Marshall, Abigail Collins, Maria L Escolar, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|April 13, 2023
Limited transmission of SARS-CoV-2 in schools in Ireland during the 2020-2021 school yearCiara Kelly, Philippa White, Elizabeth Kennedy, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Translational Psychiatry|November 6, 2021
Peripheral immune cell reactivity and neural response to reward in patients with depression and anhedoniaSara Costi, Laurel S Morris, Abigail Collins, et al.
Human Molecular Genetics|April 25, 2014
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2Brent L Fogel, Ellen Cho, Amanda Wahnich, et al.
Archives of Disease in Childhood|March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinksShona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertensionLaura A Adang, David B Frank, Ahmed Gilani, et al.
Orphanet Journal of Rare Diseases|July 14, 2019
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegenerationRandall D Marshall, Abigail Collins, Maria L Escolar, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|April 13, 2023
Limited transmission of SARS-CoV-2 in schools in Ireland during the 2020-2021 school yearCiara Kelly, Philippa White, Elizabeth Kennedy, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Translational Psychiatry|November 6, 2021
Peripheral immune cell reactivity and neural response to reward in patients with depression and anhedoniaSara Costi, Laurel S Morris, Abigail Collins, et al.
Human Molecular Genetics|April 25, 2014
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2Brent L Fogel, Ellen Cho, Amanda Wahnich, et al.
Archives of Disease in Childhood|March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinksShona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Pageof 4