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Sarah L Stenton

Showing results (1-10 of 49) with videos related to

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Clinics in Laboratory Medicine|May 23, 2020
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian DisordersSarah L Stenton, Holger Prokisch
Ebiomedicine|May 27, 2020
Genetics of mitochondrial diseases: Identifying mutations to help diagnosisSarah L Stenton, Holger Prokisch
Annals of Neurology|December 28, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic CorrelationsSarah L Stenton, Ying Zou, Hua Cheng, et al.
Journal of Inherited Metabolic Disease|May 24, 2019
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomicsSarah L Stenton, Laura S Kremer, Robert Kopajtich, et al.
The Journal of Pathology|February 15, 2021
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelinesCharlotte L Alston, Sarah L Stenton, Gavin Hudson, et al.
Genetics in Medicine Open|September 6, 2024
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier TestingSarah L Stenton, Madelynn Campagna, Anthony Philippakis, et al.
Brain : a Journal of Neurology|November 23, 2019
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesJi Zhou, Jiuwei Li, Sarah L Stenton, et al.
Frontiers in Pharmacology|December 28, 2020
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD DeficiencyLing Zhou, Jie Deng, Sarah L Stenton, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Clinics in Laboratory Medicine|May 23, 2020
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian DisordersSarah L Stenton, Holger Prokisch
Ebiomedicine|May 27, 2020
Genetics of mitochondrial diseases: Identifying mutations to help diagnosisSarah L Stenton, Holger Prokisch
Annals of Neurology|December 28, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic CorrelationsSarah L Stenton, Ying Zou, Hua Cheng, et al.
Journal of Inherited Metabolic Disease|May 24, 2019
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomicsSarah L Stenton, Laura S Kremer, Robert Kopajtich, et al.
The Journal of Pathology|February 15, 2021
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelinesCharlotte L Alston, Sarah L Stenton, Gavin Hudson, et al.
Genetics in Medicine Open|September 6, 2024
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier TestingSarah L Stenton, Madelynn Campagna, Anthony Philippakis, et al.
Brain : a Journal of Neurology|November 23, 2019
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesJi Zhou, Jiuwei Li, Sarah L Stenton, et al.
Frontiers in Pharmacology|December 28, 2020
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD DeficiencyLing Zhou, Jie Deng, Sarah L Stenton, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 5