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Emma L Baple

Showing results (1-10 of 93) with videos related to

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Cell Cycle (Georgetown, Tex.)|December 9, 2014
PCNA mutation affects DNA repair not replicationCatherine M Green, Emma L Baple, Andrew H Crosby
Brain : a Journal of Neurology|December 19, 2019
Lipid metabolic pathways converge in motor neuron degenerative diseasesOlivia J Rickman, Emma L Baple, Andrew H Crosby
Brain : a Journal of Neurology|October 4, 2017
Reply: PRUNE1: a disease-causing gene for secondary microcephalyEmma L Baple, Henry Houlden, Massimo Zollo, et al.
Journal of Medical Genetics|December 18, 2025
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic <i>CYP11B1</i> inversionAlistair T Pagnamenta, Timothy S Hall, Caroline F Wright, et al.
The Lancet. Neurology|January 24, 2024
Rapid genome sequencing for infantile-onset epilepsy within a national health-care settingHannah K Robinson, Karen Stals, Sue Hill, et al.
American Journal of Medical Genetics. Part A|March 14, 2025
Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype-Phenotype CorrelationEthan M Scott, Olivia K Wenger, Matthew Adams, et al.
Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.
Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
Molecular Genetics and Metabolism Reports|December 6, 2024
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case seriesEthan M Scott, Brandon Smith, Joseph Liu, et al.
Journal of Medical Genetics|May 30, 2024
Carrier testing for partners of <i>MUTYH</i> variant carriers: UK Cancer Genetics Group recommendationsTerri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, et al.
Pageof 10

Showing results (1-10 of 93) with videos related to

Sort By:
Pageof 10
Cell Cycle (Georgetown, Tex.)|December 9, 2014
PCNA mutation affects DNA repair not replicationCatherine M Green, Emma L Baple, Andrew H Crosby
Brain : a Journal of Neurology|December 19, 2019
Lipid metabolic pathways converge in motor neuron degenerative diseasesOlivia J Rickman, Emma L Baple, Andrew H Crosby
Brain : a Journal of Neurology|October 4, 2017
Reply: PRUNE1: a disease-causing gene for secondary microcephalyEmma L Baple, Henry Houlden, Massimo Zollo, et al.
Journal of Medical Genetics|December 18, 2025
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic <i>CYP11B1</i> inversionAlistair T Pagnamenta, Timothy S Hall, Caroline F Wright, et al.
The Lancet. Neurology|January 24, 2024
Rapid genome sequencing for infantile-onset epilepsy within a national health-care settingHannah K Robinson, Karen Stals, Sue Hill, et al.
American Journal of Medical Genetics. Part A|March 14, 2025
Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype-Phenotype CorrelationEthan M Scott, Olivia K Wenger, Matthew Adams, et al.
Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.
Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
Molecular Genetics and Metabolism Reports|December 6, 2024
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case seriesEthan M Scott, Brandon Smith, Joseph Liu, et al.
Journal of Medical Genetics|May 30, 2024
Carrier testing for partners of <i>MUTYH</i> variant carriers: UK Cancer Genetics Group recommendationsTerri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, et al.
Pageof 10