prof. dr. Elfride De Baere
Show
Sort by
-
- Conference Paper
- C3
- open access
Mapping the 3D genome of the human retina and its role in retinal disease
-
- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
-
- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
-
- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
-
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
-
Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
-
Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
(2021) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 94(supplement 1). p.42-43 -
- Journal Article
- A1
- open access
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
-
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene
-
Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement
-
Structural variants disrupt a critical regulatory region downstream of FOXG1
-
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
-
CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up
-
- Journal Article
- A1
- open access
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
-
- Journal Article
- A1
- open access
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)