Department of Ophthalmology (ceased 1-10-2018)
569 publications
Show
Sort by
-
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
-
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
-
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
-
- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
-
Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature
-
- Journal Article
- A2
- open access
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
-
Fuchs’ Uveitis syndrome : no longer a syndrome?
-
- Journal Article
- A1
- open access
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
-
Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
-
Stickler syndrome: comprehensive clinical and molecular analysis
-
Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
-
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair
-
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
-
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
-
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients