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Number of items: 4.

Valgaeren, Hanne; Sommen, Manou; Beyens, Matthias; Vandeweyer, Geert; Schrauwen, Isabelle; Schepers, Anne; Schatteman, Isabelle; Topsakal, Vedat; Dhooge, Ingeborg; Kunst, Henricus; Zanetti, Diego; Huber, Alexander M; Hoischen, Alexander; Fransen, Erik; Van Camp, Guy (2019). Insufficient evidence for a role of SERPINF1 in otosclerosis. Molecular Genetics and Genomics, 294(4):1001-1006.

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M R; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W; Verbist, Berit; de Brouwer, Arjan P M; Padberg, George W; Pennings, Ronald; Kayserili, Hülya; Kremer, Hannie; Van Camp, Guy; et al (2019). Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genetics in Medicine, 21(5):1199-1208.

Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5):649-661.

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

This list was generated on Tue Jul 23 11:11:55 2019 CEST.