Esther Pomares
5PUBLICATIONS
2CO-AUTHORS
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Publications (5)
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|Dec 11, 2025
The Specific Pathogenicity Pattern of the Different CRB1 Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.Laura Siles, Sheila Ruiz-Nogales, Pilar Méndez-Vendrell
|Feb 13, 2025
Endoplasmic reticulum stress and rhodopsin accumulation in an organoid model of Retinitis Pigmentosa carrying a RHO pathogenic variant.Arnau Navinés-Ferrer, Esther Pomares
|Feb 25, 2023
High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs.Laura Siles, Paula Gaudó, Esther Pomares
|Jul 09, 2022
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, Rafael Navarro
|Mar 06, 2021
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez
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