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- Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patientsPublication . Nogueira, Celia; Laura, Vilarinho; Cristina, Pereira; Lisbeth, Silva; Elisa, Leão Teles; Esmeralda, Rodrigues; Teresa, Campos; Esmeralda, Martins; Anabela, Bandeira; Helena, Santos; Patricia, Janeiro; Ana, GasparObjectives: 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.