Françoise Meire
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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)
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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- Journal Article
- A1
- open access
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes
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Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
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Corneal opacities in the Hallermann-Streiff syndrome
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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
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Orbital myositis in a child with linear scleroderma en coup de sabre
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Chiasmal misrouting and foveal hypoplasia without albinism
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The key role of electrophysiology in the diagnosis of visually impaired children
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Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis