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.
ADNP exhibits methyltransferase activity in overexpression systems and modulates DNA and histone methylation
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Autism research - ISSN 1939-3792-18:11 (2025) p. 2174-2191
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin : a case study
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Clinical epigenetics - ISSN 1868-7075-17:1 (2025) p. 1-12
The ADNP-mediated transcriptome response to ketamine impairs the cytoskeletal protein axis
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Journal of molecular neuroscience - ISSN 0895-8696-75:4 (2025) p. 1-17
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 1018-4813-33:12 (2025) p. 1596-1605