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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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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
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility
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- Journal Article
- A1
- open access
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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Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
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- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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- Journal Article
- A1
- open access
Focus on 16p13.3 Locus in colon cancer
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- Conference Paper
- C3
- open access
Study of genomic alterations in colon carcinoma by array comparative genomic hybridization