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Pr Frans Cremers

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Pr Frans Cremers

Netherlands

Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8)

Team

Pr Carel HOYNG

Netherlands

Genetic Diagnostics (TWG6), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
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HCP Center

The main aim is to have a significant impact on healthcare. This mission is accomplished by:The Radboud university medical center (Radboudumc, in...
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Radboud university medical center, Nijmegen, Netherlands

Geert Grooteplein Zuid 10
6525 GA Nijmegen
Netherlands
+31 24 361 11 11
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Clinical trials

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NCT03584165 Recruiting, Active

A Long-term Follow-up Study to Evaluate the Safety and efficacy of Retinal Gene Therapy in Subjects with choroideremia treated previously with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study.

Interventional
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Scientific publications

The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement

ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in...

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Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 were collected and...

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Here, we present the outcome for 1,192 probands that underwent smMIPs-based sequencing using the RP-LCA smMIPs...

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