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David R Thorburn

Showing results (151-160 of 166) with videos related to

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Diabetes|January 30, 2016
Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial HomeostasisMelinda T Coughlan, Gavin C Higgins, Tuong-Vi Nguyen, 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.
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.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, 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.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Pageof 17

Showing results (151-160 of 166) with videos related to

Sort By:
Pageof 17
Diabetes|January 30, 2016
Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial HomeostasisMelinda T Coughlan, Gavin C Higgins, Tuong-Vi Nguyen, 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.
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.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, 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.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Pageof 17