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Emer O'Connor

Showing results (21-30 of 32) with videos related to

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Neurology|October 27, 2020
<i>ANGPTL6</i> Genetic Variants Are an Underlying Cause of Familial Intracranial AneurysmsIsabel C Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Australian and New Zealand Journal of Public Health|August 25, 2023
An outbreak of acute rheumatic fever in a remote Aboriginal communityNatasha Egoroff, Hilary Bloomfield, Wanamula Gondarra, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Annals of Neurology|June 28, 2021
Genetic Susceptibility Loci in Genomewide Association Study of Cluster HeadacheAster V E Harder, Bendik S Winsvold, Raymond Noordam, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Neurology|October 27, 2020
<i>ANGPTL6</i> Genetic Variants Are an Underlying Cause of Familial Intracranial AneurysmsIsabel C Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Australian and New Zealand Journal of Public Health|August 25, 2023
An outbreak of acute rheumatic fever in a remote Aboriginal communityNatasha Egoroff, Hilary Bloomfield, Wanamula Gondarra, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Annals of Neurology|June 28, 2021
Genetic Susceptibility Loci in Genomewide Association Study of Cluster HeadacheAster V E Harder, Bendik S Winsvold, Raymond Noordam, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 4