Norka van Moll-Ramirez

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

C. Klaver, F. Cremers, C. Hoyng, 2010, Investigative ophthalmology & visual science.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

C. Klaver, F. Cremers, C. Hoyng, 2009, Ophthalmology.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

C. Klaver, F. Riemslag, A. D. den Hollander, 2013, Ophthalmology.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

J. Cruysberg, T. de Ravel, A. D. den Hollander, 2006, Investigative ophthalmology & visual science.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

T. M. Phan, C. Klaver, A. D. den Hollander, 2012, Ophthalmology.