Hasil Pencarian - Annabelle Arlt

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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> oleh 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

    Diterbitkan 2021-12-01
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  2. 2
    Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

    Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects oleh Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

    Diterbitkan 2022-01-01
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  3. 3
    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 oleh 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

    Diterbitkan 2023-01-01
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