Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
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Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
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Genes, 2023
Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.
Kocaaga A et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
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Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
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