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Shamima Rahman

Showing results (121-130 of 182) with videos related to

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European Radiology|May 22, 2015
Extra-ocular muscle MRI in genetically-defined mitochondrial diseaseRobert D S Pitceathly, Jasper M Morrow, Christopher D J Sinclair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2018
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.
Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.
Brain : a Journal of Neurology|July 1, 2015
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fissionRojeen Shahni, Catherine M Cale, Glenn Anderson, et al.
Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 25, 2010
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiencyCatarina M Quinzii, Luis C López, Robert W Gilkerson, et al.
Journal of Inherited Metabolic Disease|March 4, 2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayEmma S Reid, Hywel Williams, Glenn Anderson, et al.
Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, et al.
Pageof 19

Showing results (121-130 of 182) with videos related to

Sort By:
Pageof 19
European Radiology|May 22, 2015
Extra-ocular muscle MRI in genetically-defined mitochondrial diseaseRobert D S Pitceathly, Jasper M Morrow, Christopher D J Sinclair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2018
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.
Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.
Brain : a Journal of Neurology|July 1, 2015
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fissionRojeen Shahni, Catherine M Cale, Glenn Anderson, et al.
Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 25, 2010
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiencyCatarina M Quinzii, Luis C López, Robert W Gilkerson, et al.
Journal of Inherited Metabolic Disease|March 4, 2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayEmma S Reid, Hywel Williams, Glenn Anderson, et al.
Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, et al.
Pageof 19