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  1. Article

    Open Access

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

    Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

    Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak… in Molecular Cytogenetics (2018)

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