Associated Papers
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
40877827 (PubMed )
Supplement: 12920_2025_2186_MOESM3_ESM.pdf
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
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