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British Journal of Ophthalmology, ISSN 0007-1161, 07/2018, Volume 102, Issue 7, pp. 942 - 947
Background and aimsWe aimed to determine the frequency of von Hippel-Lindau disease (vHL) as the underlying cause of retinal hemangioblastoma and to estimate... 
prevalence | genetic screening | von Hippel-Lindau | incidence | Retinal hemangioblastoma | PENETRANCE | GENETIC-ANALYSIS | ANGIOMATOSIS | OPHTHALMOLOGY | VHL | FEATURES | AGE | Codes | Surveillance | Manufacturers | Family medical history | Mutation | Ophthalmology | Patients | Tumors
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9809, pp. 2081 - 2087
Journal Article
Current Genomics, ISSN 1389-2029, 02/2017, Volume 18, Issue 1, pp. 93 - 103
Background: Evaluation of the pathogenicity of a gene variant of unknown significance (VUS) is crucial for molecular diagnosis and genetic counseling, but can... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2017, Volume 25, Issue 3, pp. 301 - 307
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2012, Volume 13, Issue 12, pp. 1242 - 1249
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2008, Volume 359, Issue 24, pp. 2567 - 2578
Journal Article
Journal Article