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  1. Article

    Open Access

    A genome-wide DNA methylation signature for SETD1B-related syndrome

    SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De...

    I. M. Krzyzewska, S. M. Maas, P. Henneman, K. v. d. Lip, A. Venema in Clinical Epigenetics (2019)

  2. Article

    Open Access

    Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

    Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in ...

    I. M. Krzyzewska, M. Alders, S. M. Maas, J. Bliek, A. Venema in Clinical Epigenetics (2019)