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Ryan L Davis

Showing results (51-60 of 61) with videos related to

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JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
Neurology|May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Clare Puttick, et al.
Cerebellum (London, England)|August 6, 2018
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in AustraliaCe Kang, Christina Liang, Kate E Ahmad, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Antioxidants (Basel, Switzerland)|October 23, 2021
Patient Endothelial Colony-Forming Cells to Model Coronary Artery Disease Susceptibility and Unravel the Role of Dysregulated Mitochondrial Redox SignallingMarie Besnier, Meghan Finemore, Christine Yu, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Neurology|February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic EncephalopathiesElizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
Parkinsonism & Related Disorders|November 16, 2019
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypesKishore R Kumar, Ryan L Davis, Michel C Tchan, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
Neurology|May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Clare Puttick, et al.
Cerebellum (London, England)|August 6, 2018
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in AustraliaCe Kang, Christina Liang, Kate E Ahmad, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Antioxidants (Basel, Switzerland)|October 23, 2021
Patient Endothelial Colony-Forming Cells to Model Coronary Artery Disease Susceptibility and Unravel the Role of Dysregulated Mitochondrial Redox SignallingMarie Besnier, Meghan Finemore, Christine Yu, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Neurology|February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic EncephalopathiesElizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
Parkinsonism & Related Disorders|November 16, 2019
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypesKishore R Kumar, Ryan L Davis, Michel C Tchan, et al.
Pageof 7