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Number of items: 4.


Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605


Kause, Franziska, Reutter, Heiko, Marsch, Florian, Thiele, Holger, Altmueller, Janine, Ludwig, Michael and Zhang, Rong (2018). Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? Mol. Med. Rep., 17 (2). S. 3200 - 3206. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004


Zhang, Rong, Marsch, Florian, Kause, Franziska, Degenhardt, Franziska, Schmiedeke, Eeberhard, Maerzheuser, Stefanie, Hoppe, Bernd, Bachour, Haitham, Boemers, Thomas M., Schaefer, Matthias, Spychalski, Nicole, Neser, Joerg, Leonhardt, Johannes, Kosch, Ferdinand, Ure, Benno, Gomez, Barbara, Lacher, Martin, Deffaa, Oliver J., Palta, Markus, Wittekindt, Boris, Kleine, Katharina, Schmedding, Andrea ORCID: 0000-0002-7796-3329, Grasshoff-Derr, Sabine, van der Ven, Amelie, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael and Reutter, Heiko ORCID: 0000-0002-3591-5265 (2017). Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Res., 109 (13). S. 1063 - 1070. HOBOKEN: WILEY. ISSN 2472-1727

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