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المؤلفون: Hannah, Hayhurst, Irenaeus F M, de Coo, Dorota, Piekutowska-Abramczuk, Charlotte L, Alston, Sunil, Sharma, Kyle, Thompson, Rocio, Rius, Langping, He, Sila, Hopton, Rafal, Ploski, Elzbieta, Ciara, Nicole J, Lake, Alison G, Compton, Martin B, Delatycki, Aad, Verrips, Penelope E, Bonnen, Simon A, Jones, Andrew A, Morris, David, Shakespeare, John, Christodoulou, Dorota, Wesol-Kucharska, Dariusz, Rokicki, Hubert J M, Smeets, Ewa, Pronicka, David R, Thorburn, Grainne S, Gorman, Robert, McFarland, Robert W, Taylor, Yi Shiau, Ng
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: Hydroxymethyl and Formyl Transferases, Male, Mitochondrial Diseases, Adolescent, Biopsy, Infant, Newborn, Infant, Fibroblasts, Prognosis, Mitochondria, Cohort Studies, Mitochondrial Proteins, Child, Preschool, Genomic Structural Variation, Mutation, Humans, Female, Leigh Disease, Erratum, Child, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2cc9b423544ca3b4a32ed517a409765aTest
https://pubmed.ncbi.nlm.nih.gov/31020008Test -
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المؤلفون: Syeda T, Ahmed, Charlotte L, Alston, Sila, Hopton, Langping, He, Iain P, Hargreaves, Gavin, Falkous, Monika, Oláhová, Robert, McFarland, Doug M, Turnbull, Mariana C, Rocha, Robert W, Taylor
المصدر: Scientific Reports
مصطلحات موضوعية: Cell Nucleus, Male, Electron Transport Complex I, Mitochondrial Diseases, Biopsy, Fluoroimmunoassay, Fluorescent Antibody Technique, NADH Dehydrogenase, DNA, Mitochondrial, Oxidative Phosphorylation, Article, Mitochondria, Genetic Heterogeneity, Child, Preschool, Mutation, Humans, Female, Child, Muscle, Skeletal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0c05f692b046b2586c3c841300f2608bTest
https://pubmed.ncbi.nlm.nih.gov/29142257Test