検索結果 - Johannes Numrich

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    A novel SPINK5 donor splice site variant in a child with Netherton syndrome 著者: Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer

    出版年 Molecular Genetics & Genomic Medicine (2021-03-01)
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  2. 2

    P614: The clinical genome: Validation data beyond clinical exome 著者: 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

    出版年 Genetics in Medicine Open (2024-01-01)
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