Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S et al.
Genes, 2023
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