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  1. 1
    Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i>

    Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i> by Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, Christel Depienne, Andrea Gangfuß, Heike Kölbel, Albert Sickmann, Erik Freier, Nicolai Kohlschmidt, Andreas Hentschel, Joachim Weis, Artur Czech, Anika Grüneboom, Andreas Roos

    Published 2021-12-01
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  2. 2
    P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

    P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases by Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh

    Published 2023-01-01
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