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Robyn Labrum

Showing results (11-20 of 26) with videos related to

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Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
Brain : a Journal of Neurology|November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesiasAlice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Annals of Neurology|December 26, 2015
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxiaCharles A Galea, Aamira Huq, Paul J Lockhart, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
NPJ Parkinson'S Disease|October 17, 2024
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's diseaseClodagh Towns, Zih-Hua Fang, Manuela M X Tan, et al.
The Lancet. Neurology|March 20, 2018
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort studyAlhassane Diallo, Heike Jacobi, Arron Cook, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
Brain : a Journal of Neurology|November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesiasAlice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Annals of Neurology|December 26, 2015
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxiaCharles A Galea, Aamira Huq, Paul J Lockhart, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
NPJ Parkinson'S Disease|October 17, 2024
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's diseaseClodagh Towns, Zih-Hua Fang, Manuela M X Tan, et al.
The Lancet. Neurology|March 20, 2018
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort studyAlhassane Diallo, Heike Jacobi, Arron Cook, et al.
Pageof 3