prof. dr. Elfride De Baere
work address
De Pintelaan 185
9000 Gent
9000 Gent
ORCID iD
0000-0002-5609-68951 – 10 of 122
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- 2016
- Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease
- 2015
- A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
- Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
- Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
- Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Mother and daughter became father and son: a case report