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Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine

2017-03-18Conference object Open access
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dc.contributor.authorNogueira, Célia
dc.contributor.authorVilarinho, Laura
dc.contributor.authorPereira, Cristina
dc.contributor.authorSilva, Lisbeth
dc.contributor.authorVieira, Luís
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorCampos, Teresa
dc.contributor.authorJaneiro, Patricia
dc.contributor.authorCosta, Cláudia
dc.contributor.authorGaspar, Ana
dc.contributor.authorDupont, Juliette
dc.contributor.authorSoares, Gabriela
dc.contributor.authorBandeira, Anabela
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorMagalhães, Marina
dc.contributor.authorSantos, Helena
dc.date.accessioned2018-04-04T15:36:05Z
dc.date.available2018-04-04T15:36:05Z
dc.date.issued2017-03-18
dc.description.abstractObjectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.pt_PT
dc.description.sponsorshipThis Research Project is support by FCT (Fundação da Ciência e Tecnologia) (PTDC/DTP-PIC/2220/2014) - Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach.pt_PT
dc.description.versioninfo:eu-repo/semantics/draftpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5530
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationGenetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach
dc.subjectMitochondrial Diseasespt_PT
dc.subjectNGSpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMitochondrial disorders: insights into diagnosis and management in the new era of genomic medicinept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleGenetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FDTP-PIC%2F2220%2F2014/PT
oaire.citation.conferencePlaceÉvora, Portugalpt_PT
oaire.citation.title13th International Symposium of SPDM (Sociedade Portuguesa de Doenças Metabólicas), 16-17 March 2017pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublication728213d7-5072-4aca-9b23-c41755a40406
relation.isProjectOfPublication.latestForDiscovery728213d7-5072-4aca-9b23-c41755a40406

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