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- Journal Article
- A1
- open access
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
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- Journal Article
- A1
- open access
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
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IQCB1 Mutations in Patients with Leber Congenital Amaurosis
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CEP290, a gene with many faces : mutation overview and presentation of CEP290base
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa