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2021
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
2015
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