Norka van Moll-Ramirez

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Alberta A. H. J. Thiadens, Anneke I. den Hollander, Susanne Roosing et al. · The American Journal of Human Genetics · 2009 · 215 citations · Full text

Medicine, Molecular Genetics, Neuroscience +13

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

Alberta A. H. J. Thiadens, Ville Somervuo, L. Ingeborgh van den Born et al. · Investigative Ophthalmology & Visual Science · 2010 · 181 citations · Full text

Medicine, Ophthalmology, Vision Science +17

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon et al. · Ophthalmology · 2012 · 137 citations

Medicine, Genetics, Ophthalmology +13

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Alberta A. H. J. Thiadens, Susanne Roosing, Rob W.J. Collin et al. · Ophthalmology · 2010 · 71 citations

Medicine, Molecular Genetics, Neurology +3

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Susanne Roosing, L. Ingeborgh van den Born, Carel B. Hoyng et al. · Ophthalmology · 2013 · 42 citations

Life Sciences, Genetics, Molecular Genetics +16