Nogueira, CeliaLaura, VilarinhoCristina, PereiraLisbeth, SilvaElisa, Leão TelesEsmeralda, RodriguesTeresa, CamposEsmeralda, MartinsAnabela, BandeiraHelena, SantosPatricia, JaneiroAna, Gaspar2020-05-232020-05-232019-03-19http://hdl.handle.net/10400.18/6770Objectives: The purpose of our project was to develop a NGS strategy to identify the genetic defects in 250 patients suspicious of mitochondrial disorders, to confirm the clinical and biochemical diagnosis of the disease.engMitochondrial DisordersNext Generation SequencingMolecular DiagnosisDoenças GenéticasMolecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patientsconference object