Now showing items 1-4 of 4

    • Activated PI3K delta syndrome type 2: Two patients, a novel mutation, and review of the literature 

      Wissenschaftlicher Artikel
      Olbrich, Peter; Lorenz, Myriam; Daball, Paola Cura; Manuel Lucena, Jose; Rensing-Ehl, Anne; Sanchez, Berta; Fuehrer, Marita; Camacho-Lovillo, Marisol; Melon, Marta; Schwarz, Klaus; Neth, Olaf; Speckmann, Carsten (Universität Ulm, 2016)

    • Clinical and Molecular Heterogeneity of RTE L1 Deficiency (vol 8, pg 449, 2017) 

      Wissenschaftlicher Artikel
      Speckmann, Carsten; Sahoo, Sushree Sangita; Rizzi, Marta; Hirabayashi, Shinsuke; Karow, Axel; Serwas, Nina Kathrin; Hoemberg, Marc; Damatova, Natalja; Schindler, Detlev; Vannier, Jean-Baptiste; Boulton, Simon J.; Pannicke, Ulrich; Goehring, Gudrun; Thomay, Kathrin; Verdu-Amoros, J. J.; Hauch, Holger; Woessmann, Wilhelm; Escherich, Gabriele; Laack, Eckart; Rindle, Liliana; et al. (Universität Ulm, 2017)

    • Clinical and Molecular Heterogeneity of RTEL1 Deficiency 

      Wissenschaftlicher Artikel
      Speckmann, Carsten; Sahoo, Sushree Sangita; Rizzi, Marta; Hirabayashi, Shinsuke; Karow, Axel; Serwas, Nina Kathrin; Hoemberg, Marc; Damatova, Natalja; Schindler, Detlev; Vannier, Jean-Baptiste; Boulton, Simon J.; Pannicke, Ulrich; Goehring, Gudrun; Thomay, Kathrin; Verdu-Amoros, J. J.; Hauch, Holger; Woessmann, Wilhelm; Escherich, Gabriele; Laack, Eckart; Rindle, Liliana; et al. (Universität Ulm, 2017)

    • Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 

      Wissenschaftlicher Artikel
      Klemann, Christian; Esquivel, Myrian; Magerus-Chatinet, Aude; Lorenz, Myriam R.; Fuchs, Ilka; Neveux, Nathalie; Castelle, Martin; Rohr, Jan; da Cunha, Claudia Bettoni; Ebinger, Martin; Kobbe, Robin; Kremens, Bernhard; Kollert, Florian; Gambineri, Eleonora; Lehmberg, Kai; Seidel, Markus G.; Siepermann, Kathrin; Voelker, Thomas; Schuster, Volker; Goldacker, Sigune; et al. (Universität Ulm, 2017)