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Number of items: 2.

Journal Article

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

Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Zaniew, Marcin, Adamczyk, Piotr ORCID: 0000-0001-9557-221X, Bayat, Allan ORCID: 0000-0003-4986-8006, Yilmaz, Oeznur, Lindenberg, Tobias T., Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C., Sullivan, Bonnie, Bartik, Lauren, Gnys, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M. and Dworschak, Gabriel C. . X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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