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J Lake

Showing results (271-280 of 288) with videos related to

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Nature Communications|September 30, 2023
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortalityYun Soo Hong, Stephanie L Battle, Wen Shi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
American Journal of Human Genetics|April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
The Lancet. Global Health|June 3, 2026
WHO estimates of the global, regional, and national burden of 42 foodborne infectious and chemical hazards, 2000-21: an updated data synthesisRobin J Lake, Brecht Devleesschauwer, Shannon E Majowicz, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Pageof 29

Showing results (271-280 of 288) with videos related to

Sort By:
Pageof 29
Nature Communications|September 30, 2023
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortalityYun Soo Hong, Stephanie L Battle, Wen Shi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
American Journal of Human Genetics|April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
The Lancet. Global Health|June 3, 2026
WHO estimates of the global, regional, and national burden of 42 foodborne infectious and chemical hazards, 2000-21: an updated data synthesisRobin J Lake, Brecht Devleesschauwer, Shannon E Majowicz, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Pageof 29