19 results on '"Presi, Silvia"'
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2. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement
3. Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art.
4. Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights
5. APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
6. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
7. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
8. Null ABCA3 in Humans: Large Homozygous ABCA3 Deletion, Correlation to Clinical–Pathological Findings
9. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement
10. Long-term virological effect of highly active antiretroviral therapy on cerebrospinal fluid and relationship with genotypic resistance
11. Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome
12. Unexplained Neonatal Respiratory Distress Due to Congenital Surfactant Deficiency
13. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
14. Effect of Genotypic Resistance on the Virological Response to Highly Active Antiretroviral Therapy in Cerebrospinal Fluid
15. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
16. Genetic surfactant dysfunction in newborn infants and children with acute and chronic lung disease
17. Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches
18. Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
19. Genetic susceptibility to neonatal lung diseases.
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