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المؤلفون: B Bansagi, Ramesh, Andreas Roos, Hanns Lochmüller, Helen Griffin, Alan J. Robinson, Rita Horvath, Boczonadi, Filmon Eyassu, Ers Kunji, Monika Oláhová, Angela Pyle, Tuomo Polvikoski, Patrick F. Chinnery, Roger G. Whittaker, Robert W. Taylor, Christoph H. Borchers, King, Anthony C. Smith
المصدر: Genetics in Medicine. 21:2163-2164
مصطلحات موضوعية: Mitochondrial DNA, Pathology, medicine.medical_specialty, business.industry, medicine, Disease, Spinal muscular atrophy, medicine.disease, business, OXODICARBOXYLATE CARRIER, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::173d69b4dcb58bf6371c7dd1f366570bTest
https://doi.org/10.1038/s41436-019-0506-1Test -
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المؤلفون: Gavin Hudson, Mauro Santibanez-Koref, Charlotte L. Alston, Emma L. Blakely, Ian J. Wilson, Helen Griffin, Angela Pyle, Rita Horvath, Patrick F. Chinnery, Jennifer Duff, Robert W. Taylor
المساهمون: Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository
المصدر: Genetics in Medicine
مصطلحات موضوعية: Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, DNA Mutational Analysis, mitochondrial DNA, Computational biology, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Genome, law.invention, 03 medical and health sciences, chemistry.chemical_compound, mitochondrial disorders, 0302 clinical medicine, law, medicine, Humans, Point Mutation, Exome, False Positive Reactions, Original Research Article, Genetics (clinical), Polymerase chain reaction, 030304 developmental biology, Cell Nucleus, 0303 health sciences, Point mutation, Chromosome Mapping, Computational Biology, DNA, sequencing, medicine.disease, Phenotype, Mitochondria, 3. Good health, chemistry, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fed6d704601fbea19dce5ec8246e262Test
https://doi.org/10.1038/gim.2014.66Test