15 results on '"Vázquez-Domínguez, Irene"'
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2. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
3. Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina.
4. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease
5. Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides
6. Downregulation of specific FBXW7 isoforms with differential effects in T-cell lymphoblastic lymphoma
7. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
8. Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
9. Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
10. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
11. Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65
12. Estudio de la regulación del gen FBXW7 y el papel de sus isoformas en linfoma linfoblástico de células T
13. Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges
14. Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.
15. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.
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