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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
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Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
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The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)
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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
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Leg ulcers: A new symptom of Blau syndrome?