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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up
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- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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- Journal Article
- A1
- open access
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
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- Journal Article
- A1
- open access
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290
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- Journal Article
- A1
- open access
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients