Minimal repeats are ubiquitous sites of crossover and recombination across the human genome

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BMC genomics - ISSN 1471-2164-26:1 (2025) p. 1-16
Auteur(s)
    Mina Ohadi, Nahid Tajeddin, Hadi Bayat, Dale Annear, Ali M.A. Maddi, Hamid R. Khorram Khorshid, Kaveh Kavousi, Ahmad Delbari, Alireza Nikkhah, Masoud Arabfard

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 1018-4813-32 (2024) p. 630-638
Auteur(s)

Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions

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Emerging topics in life sciences - ISSN 2397-8554-7:3 (2023) p. 265-275

CGG short tandem repeats in unexplained intellectual disability and autism

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Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Medical Genetics, 2023,268 p.