المؤلفون: Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina

المساهمون: Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina

مصطلحات موضوعية: MITO-NUCLEAR, combined sequencing of mitochondrial and nuclear DNA, mitochondrial and nuclear disease panel, mitochondrial disease, mtDNA, next-generation sequencing (NGS), nuclear genes

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000998167800001; volume:14; issue:5; firstpage:1087; numberofpages:13; journal:GENES; https://hdl.handle.net/11588/922603; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160372712

الاتاحة: https://hdl.handle.net/11588/922603
https://doi.org/10.3390/genes14051087

المؤلفون: Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski-Feder, Elke, Horvath, Rita, Benet-Pagès, Anna, Diebold, Isabel

مصطلحات موضوعية: NUMTs, heteroplasmy detection, high-throughput sequencing, mitochondrial and nuclear disease panel, mitochondrial disorders, mtDNA-server, Costs and Cost Analysis, DNA, Mitochondrial, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Mitochondrial Diseases, Sensitivity and Specificity, Sequence Analysis

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/290325

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/290325
https://doi.org/10.17863/CAM.37555

المؤلفون: Anna Benet-Pagès, Rita Horvath, Stephanie Kleinle, Angela Abicht, Isabel Diebold, Ulrike Schön, Elke Holinski-Feder, Florentine Scharf

المساهمون: Diebold, Isabel [0000-0002-1753-563X], Apollo - University of Cambridge Repository

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, mtDNA‐server, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Computational biology, Biology, DNA, Mitochondrial, Sensitivity and Specificity, Genome, Deep sequencing, DNA sequencing, mtDNA-server, 03 medical and health sciences, symbols.namesake, mitochondrial disorders, Genetics, medicine, Humans, Genetic Testing, mitochondrial and nuclear disease panel, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, high‐throughput sequencing, high-throughput sequencing, High-Throughput Nucleotide Sequencing, Original Articles, Sequence Analysis, DNA, medicine.disease, Heteroplasmy, 030104 developmental biology, heteroplasmy detection, Costs and Cost Analysis, symbols, Original Article, NUMTs

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baca702771c93efdc70a64f8f6eba9d2
https://doi.org/10.1002/mgg3.500