Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
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European journal of human genetics - ISSN 1018-4813- (2024) p.
Identification of a DLG3 stop mutation in the MRX20 family
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European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323
Epigenetic analytical approaches in ecotoxicological aquatic research
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Environmental pollution - ISSN 0269-7491-330 (2023) p. 1-16
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
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Clinical epigenetics - ISSN 1868-7083-15:1 (2023) p. 1-28
ADNP in reverse gear
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European journal of human genetics - ISSN 1018-4813-31 (2023) p. 849-850