Understanding the functional consequences of mutations in the Helsmoortel-Van der Aa and fragile X syndromes

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Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Biomedical Sciences,416 p.

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

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European journal of human genetics - ISSN 1018-4813- (2025) p.
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Varicella-zoster virus recapitulates its immune evasive behaviour in matured hiPSC-derived neurospheroids

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Frontiers in immunology - ISSN 1664-3224-15 (2024) p. 1-19
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