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Katherine Mathews

Showing results (31-40 of 39) with videos related to

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The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|March 13, 2024
What Can State Medical Boards Do to Effectively Address Serious Ethical Violations?Tristan McIntosh, Elizabeth Pendo, Heidi A Walsh, et al.
Neurology|July 11, 2022
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial DesignChristian Rummey, Louise A Corben, Martin Delatycki, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Journal of Neurology|June 19, 2013
Analysis of the visual system in Friedreich ataxiaLauren A Seyer, Kristin Galetta, James Wilson, et al.
Annals of Clinical and Translational Neurology|September 21, 2016
Progression of Friedreich ataxia: quantitative characterization over 5 yearsMaya Patel, Charles J Isaacs, Lauren Seyer, et al.
Frontiers in Molecular Biosciences|September 22, 2022
A non-synonymous single nucleotide polymorphism in <i>SIRT6</i> predicts neurological severity in Friedreich ataxiaLayne N Rodden, Christian Rummey, Yi Na Dong, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|March 13, 2024
What Can State Medical Boards Do to Effectively Address Serious Ethical Violations?Tristan McIntosh, Elizabeth Pendo, Heidi A Walsh, et al.
Neurology|July 11, 2022
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial DesignChristian Rummey, Louise A Corben, Martin Delatycki, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Journal of Neurology|June 19, 2013
Analysis of the visual system in Friedreich ataxiaLauren A Seyer, Kristin Galetta, James Wilson, et al.
Annals of Clinical and Translational Neurology|September 21, 2016
Progression of Friedreich ataxia: quantitative characterization over 5 yearsMaya Patel, Charles J Isaacs, Lauren Seyer, et al.
Frontiers in Molecular Biosciences|September 22, 2022
A non-synonymous single nucleotide polymorphism in <i>SIRT6</i> predicts neurological severity in Friedreich ataxiaLayne N Rodden, Christian Rummey, Yi Na Dong, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 4