Maria Hidalgo-Rodriguez
Leioa, PV, Spain
Last Updated: 09/26/2026
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Found 9 publications
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Topical Administration of Novel FKBP12 Ligand MP-004 Improves Retinal Function and Structure in Retinitis Pigmentosa Models.
Journal: Investigative ophthalmology & visual science
Published: March 26, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Journal: Experimental eye research
Published: February 28, 2024
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Journal: Genes
Published: July 11, 2023
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Journal: Frontiers in genetics
Published: June 03, 2023
Subretinal Injection Techniques for Retinal Disease: A Review.
Journal: Journal of clinical medicine
Published: June 30, 2022
Showing 1-9 of 9
Last Updated: 09/26/2026