Saskia D. van der Velde-Visser

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born et al. · The American Journal of Human Genetics · 2001 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser et al. · Molecular Therapy — Nucleic Acids · 2012 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Kinetics of the formation and removal of cisplatin-DNA adducts in blood cells and tumor tissue of cancer patients receiving chemotherapy: comparison with in vitro adduct formation.

Anne Marie J. Fichtinger-Schepman, Saskia D. van der Velde-Visser, H C van Dijk-Knijnenburg et al. · PubMed · 1990 · 100 citations

Medicine, Oncology, Pharmacology +12

Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool

Anna Simon, Laurence Cuisset, M.-Françoise Vincent et al. · Annals of Internal Medicine · 2001 · 96 citations

Life Sciences, Internal Medicine, Molecular Medicine +15

Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in<i>CSPG2</i>/<i>Versican</i>That Result in an Imbalance of Splice Variants

Arijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri et al. · Investigative Ophthalmology & Visual Science · 2006 · 89 citations · Full text

Life Sciences, Genetics, Ophthalmology +13