Department of Ophthalmology
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- 2015
- Retinal development in infants and young children with achromatopsia
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
- Prominent Mittendorf spot
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
- From variome to phenome: pathogenesis, diagnosis and management of ectopic mineralization disorders
- Refsum disease
- Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy