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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
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Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
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Retinal development in infants and young children with achromatopsia
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- Journal Article
- A1
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Abnormal retinal development associated with FRMD7 mutations
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The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus