Associated Papers
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.
Wang MY et al.
Journal of Medical Genetics, 2024
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.
Jin Y et al.
Investigative Ophthalmology & Visual Science, 2024
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
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