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Sarah L Stenton

Showing results (31-40 of 49) with videos related to

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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.
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.
Kidney International|June 1, 2022
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiencyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Kidney International|April 28, 2022
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Medrxiv : the Preprint Server for Health Sciences|May 18, 2026
NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South AfricaPatricia Kipkemoi, Emily O'Heir, Mutaz Amin, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

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Pageof 5
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.
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.
Kidney International|June 1, 2022
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiencyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Kidney International|April 28, 2022
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathyStefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, et al.
Medrxiv : the Preprint Server for Health Sciences|May 18, 2026
NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South AfricaPatricia Kipkemoi, Emily O'Heir, Mutaz Amin, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
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