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New variants and in silico analyses in GRK1 associated Oguchi disease
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation
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arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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- Journal Article
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Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
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- Journal Article
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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations