Nogueira, CéliaVilarinho, LauraPereira, CristinaSilva, LisbethVieira, LuisLeão Teles, ElisaRodrigues, EsmeraldaCampos, TeresaJaneiro, PatríciaCosta, ClaúdiaGaspar, AnaSoares, GabrielaBandeira, AnabelaMartins, EsmeraldaMagalhães, MarinaSequeira, SílviaVieira, José PedroSantos, Helena2018-04-042018-04-042017-09-06http://hdl.handle.net/10400.18/5529Abstract publicado em: Journal of Inborn Errors of Metabolism and Screening (Special Supplement), 2017.Objectives: 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.engDoenças GenéticasNGSMitochondrial diseasesconference object