Show
Sort by
-
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
-
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
-
- Journal Article
- A1
- open access
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes
-
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
-
Corneal opacities in the Hallermann-Streiff syndrome
-
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
-
Orbital myositis in a child with linear scleroderma en coup de sabre
-
Chiasmal misrouting and foveal hypoplasia without albinism
-
The key role of electrophysiology in the diagnosis of visually impaired children
-
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
-
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
-
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
-
Identification of mutations in the CRB1, RPE65, RETGC1, AIPL1, and RPGRIP1 genes in a cohort of 38 patients with juvenile retinitis pigmentosa
-
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
-
Centrale en perifere neurologische toxiciteit door metronidazol