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
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.
Demir Ş et al.
Clinical Genetics, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
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
Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.
Ju Y et al.
Genes, 2024
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Palmer E et al.
Orphanet Journal of Rare Diseases, 2023
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.
Dong M et al.
Frontiers in Pediatrics, 2022
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI et al.
Ophthalmology, 2012
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