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2. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.

3. Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice

7. Contributors

9. Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome

10. The Biodiversity Moonshot. System Thinking to Co-Create a Biodiversity Embedded Future for Companies

12. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

18. Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

22. The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

24. Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B

25. Toward a Novel Medical Device Based on Chromatic Pupillometry for Screening and Monitoring of Inherited Ocular Disease: A Pilot Study

27. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

33. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

36. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

37. Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy

38. e-Health using telemedicine dedicated to healthcare personnel: 10 years of Italian experience (Preprint)

39. A telemedicine platform dedicated to healthcare personnel: 10 years of Italian experience (Preprint)

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