Universität zu Köln

Journal Article

Koenig, Jens Christian, Karsay, Rebeka, Gerss, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurelia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stephane, Schanstra, Joost P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Toenshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra and Konrad, Martin (2022). Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int. Rep., 7 (9). S. 2016 - 2029. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Noethe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Hoeben, Inga M., Olbrich, Heike, Loges, Niki T., Raidt, Johanna, Dougherty, Gerard W., Hjeij, Rim, Dworniczak, Bernd, Omran, Heymut, Amirav, Israel, Biebach, Luisa, Fabricius, Dorit, Griese, Matthias, Grosse-Onnebrink, Joerg, Haeffner, Karsten, Hector, Andreas, Jung, Andreas, Kaiser-Labusch, Petra, Kaiser, Thomas, Kessler, Christina, Kitz, Richard, Knowles, Michael R., Koerner-Rettberg, Cordula, Kristoffersson, Ulf, Leigh, Margaret W., Mertsch, Pontus, Mischo, Bernhard, Nielsen, Kim G., Poeta, Marco ORCID: 0000-0002-7515-1394, Rietschel, Ernst, Roth, Samra, Santamaria, Francesca, Schmalstieg, Christian, Schmidts, Miriam, Schwarz, Carsten, Schwerk, Nicolaus, Seithe, Horst, Tebbe, Johannes, Werner, Claudius and Zariwala, Maimoona A. (2019). Randomization of Left-Right Asymmetry and Congenital Heart Defects The Role of DNAH5 in Humans and Mice. Circ.-Genom. Precis. Med., 12 (11). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2574-8300

Olbrich, Heike, Cremes, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmueller, Janine, Rommelmann, Frank and Omran, Heymut (2015). Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am. J. Hum. Genet., 97 (4). S. 546 - 555. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Noethe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas ORCID: 0000-0002-6699-0014, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhan B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmueller, Janine, Krenz, Henrike, Woeste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J. and Omran, Heymut (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am. J. Hum. Genet., 105 (5). S. 1030 - 1040. CAMBRIDGE: CELL PRESS. ISSN 1537-6605