Argomenti di tesi proposti dal docente.
Copy number variations in neurodevelopmental disorders
Mitochondrial translational defects
RBCK1-related myopathy
Thymidine kinase 2 deficiency
Pediatric mitochondrial disorders registry
Prenatal signs of mitochondrial disorders
Ultime tesi seguite dal docente
Tesi di Laurea Magistrale a ciclo unico
- Clinical and genetic characterization of patients enrolled in the mitochondrial registry GENOMIT
- Malattie rare: come l'Esoma cambia l'approccio diagnostico ed il follow-up clinico
- Retrospective natural history of mitochondrial ATPase 6/8 deficiency: clinical, biochemical and molecular analysis of a large cohort of patients
