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المصدر: European Heart Journal. 40:397-398
مصطلحات موضوعية: Male, medicine.medical_specialty, MCARDLE DISEASE, business.industry, Heart Ventricles, MEDLINE, Magnetic Resonance Imaging, Cine, Cardiomyopathy, Hypertrophic, medicine.disease, Electrocardiography, Internal medicine, medicine, Glycogen Storage Disease Type V, Humans, Muscle, Skeletal, Cardiology and Cardiovascular Medicine, business, Glycogen storage disease type V, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0f166d4a18f9f66e6e18899a440e94Test
https://doi.org/10.1093/eurheartj/ehy783Test -
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المؤلفون: Henry Houlden, Ian Holt, Enrico Bugiardini, Hue-Tran Horning-Do, Alexey Amunts, Janice L. Holton, Cathy E. Woodward, Alice L Mitchell, Sachit Shah, Michael G. Hanna, Rosaline Quinlivan, Rudolf J. Wiesner, Alan M Pitmann, Antonella Spinazzola, Robert D S Pitceathly, Ilaria Dalla Rosa, Olivia V. Poole, Iain P. Hargreaves
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Adult, Male, Ribosomal Proteins, RM, Mitochondrial translation, Mitochondrial disease, Protein subunit, Respiratory chain, Biology, Mitochondrion, Ribosome, Models, Biological, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Exome Sequencing, Genetics, medicine, Mitochondrial ribosome, Humans, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Homozygote, General Medicine, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Mitochondria, Pedigree, Phenotype, Protein Biosynthesis, Mutation, General Article, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b4cd36ca2d1a1d119ca863faac8c23Test
https://researchonline.ljmu.ac.uk/id/eprint/11032/1/enrico.pdfTest