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WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
UploadExpanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Download from doi.orgClinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy
UploadMultirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)
UploadMutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Download from doi.orgSSBP1 mutations in dominant optic atrophy with variable retinal degeneration
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