Associated Papers
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 › unsolved_patients
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2023
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Bouzia Z et al.
American Journal of Ophthalmology, 2020
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