array CGH

  • Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
    Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Bönnemann, Knut Brockmann, Hans-Jürgen Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude
  • A novel immunodeficiency syndrome associated with partial trisomy 19p13
    Markus G Seidel, Celia Duerr, Stavroula Woutsas, Anette Schwerin-Nagel, Kambis Sadeghi, Jürgen Neesen, Sabine Uhrig, Elisangela Santos-Valente, Winfried F Pickl, Wolfgang Schwinger, Christian Urban, Kaan Boztug, Elisabeth Förster-Waldl