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2023
Ishorst, Nina, Henschel, Leonie, Thieme, Frederic, Drichel, Dmitriy, Sivalingam, Sugirthan, Mehrem, Sarah L., Fechtner, Ariane C., Fazaal, Julia, Welzenbach, Julia, Heimbach, Andre, Maj, Carlo, Borisov, Oleg, Hausen, Jonas, Raff, Ruth, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Dixon, Michael, Rada-Iglesias, Alvaro, Bartusel, Michaela, Rojas-Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Goelz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter, Noethen, Markus M., Nothnagel, Michael, Becker, Tim, Ludwig, Kerstin U. and Mangold, Elisabeth (2023). Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Mol. Genet. Genom. Med., 11 (3). HOBOKEN: WILEY. ISSN 2324-9269
2021
Bergbreiter, Astrid, Jaeger, Teresa, Karle, Antje, Bitzinger, Diane, Ettl, Tobias, Spanier, Gerrit ORCID: 0000-0002-0226-7580, Jaegle, Herbert, Neu, Reiner, Soeder, Yorick, Evert, Matthias, Reichert, Torsten E., Berneburg, Mark, Brochhausen, Christoph, Schreml, Julia, Fliegauf, Manfred, Salzer, Ulrich, Redel, Andreas and Schreml, Stephan (2021). Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation. Eur. J. Med. Genet., 64 (3). AMSTERDAM: ELSEVIER. ISSN 1878-0849