Found: 3

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  • De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

    Published in:
    2021
    By:
    • Riedhammer, Korbinian M;
    • Stockler, Sylvia;
    • Ploski, Rafal;
    • Wenzel, Maren;
    • Adis-Dutschmann, Burkhard;
    • Ahting, Uwe;
    • Alhaddad, Bader;
    • Blaschek, Astrid;
    • Haack, Tobias B;
    • Kopajtich, Robert;
    • Lee, Jessica;
    • Pienkowski, Victor Murcia;
    • Pollak, Agnieszka;
    • Szymanska, Krystyna;
    • Tarailo-Graovac, Maja;
    • van der Lee, Robin;
    • Karnebeek, Clara D van;
    • Meitinger, Thomas;
    • Krägeloh-Mann, Ingeborg;
    • Vill, Katharina
    Publication type:
    journal article

  • CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.

    Published in:
    NAR Genomics & Bioinformatics, 2021, v. 3, n. 3, p. 1, doi. 10.1093/nargab/lqab078
    By:
    • Chengyao Peng;
    • Dieck, Simon;
    • Schmid, Alexander;
    • Ahmad, Ashar;
    • Knaus, Alexej;
    • Wenzel, Maren;
    • Mehnert, Laura;
    • Zirn, Birgit;
    • Haack, Tobias;
    • Ossowski, Stephan;
    • Wagner, Matias;
    • Brunet, Theresa;
    • Ehmke, Nadja;
    • Danyel, Magdalena;
    • Rosnev, Stanislav;
    • Kamphans, Tom;
    • Nadav, Guy;
    • Fleischer, Nicole;
    • Fröhlich, Holger;
    • Krawitz, Peter
    Publication type:
    Article

  • NR4A2 and Dystonia with Dopa Responsiveness.

    Published in:
    2021
    By:
    • Winter, Benedikt;
    • Krämer, Johannes;
    • Meinhardt, Tamara;
    • Berner, Daniel;
    • Alt, Kerstin;
    • Wenzel, Maren;
    • Winkelmann, Juliane;
    • Zech, Michael
    Publication type:
    case study