High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

CRB1mutations in inherited retinal dystrophies

(2011) Kinga Bujakowska et al.   HUMAN MUTATION

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) Frauke Coppieters et al.   HUMAN MUTATION

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

(2009) Rolf H.A.M. Vossen et al.   HUMAN MUTATION

The Crumbs complex: from epithelial-cell polarity to retinal degeneration

(2009) N. A. Bulgakova et al.   JOURNAL OF CELL SCIENCE

High-resolution DNA melting analysis: advancements and limitations

(2008) Carl T. Wittwer   HUMAN MUTATION

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH