prof. dr. Elfride De Baere
work address
De Pintelaan 185, ingang 34 (MRB)
9000 Gent
9000 Gent
ORCID iD
0000-0002-5609-6895
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- 2017
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
- Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
- 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
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
- Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Non-coding variation in disorders of sex development
- NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development