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Journal Article
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
Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike and Mueller-Felber, Wolfgang
(2021).
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Orphanet J. Rare Dis., 16 (1).
LONDON:
BMC.
ISSN 1750-1172