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  1. 1
    altAFplotter: a web app for reliable UPD detection in NGS diagnostics

    altAFplotter: a web app for reliable UPD detection in NGS diagnostics by Maximilian Radtke, Johanna Moch, Julia Hentschel, Isabell Schumann

    Published 2024-09-01
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  2. 2
    Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

    Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis by Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann

    Published 2023-12-01
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