Nogueira, CeliaPereira, CristinaSilva, LisbethVieira, LuisLeão Teles, ElisaCampos, TeresaRodrigues, EsmeraldaMartins, EsmeraldaBandeira, AnabelaSoares, GabrielaJaneiro, PatriciaCosta, ClaudiaGaspar, AnaSantos, HelenaVilarinho, Laura2019-04-082019-04-082018-06-05http://hdl.handle.net/10400.18/6368The development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.engMitochondrial DiseasesGene PanelmtDNANuclear GenesNext Generation SequencingNGSDiagnosisDoenças MitocondriaisDoenças Genéticasconference object