Showing 1 - 2 results of 2 for search 'Stephanie Weissgraeber', query time: 0.02s Refine Results
  1. 1
    P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

    P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita by Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, Peter Bauer

    Published 2023-01-01
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    Article
  2. 2
    P614: The clinical genome: Validation data beyond clinical exome

    P614: The clinical genome: Validation data beyond clinical exome by Kornelia Tripolszki, Melina Bilinski, Matthias Bieg, Anett Marais, Catarina Pereira, Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich, Krishna Kumar Kandaswamy, Jorge Pinto-Basto, Peter Bauer, Omid Paknia

    Published 2024-01-01
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    Article

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