Universität zu Köln

Journal Article

Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique ORCID: 0000-0002-9696-4562, Timal, Sharita, Reunert, Janine, Rust, Stephan, Perez, Belen, Vicogne, Dorothee, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel ORCID: 0000-0001-9679-7955, Perez-Cerda, Celia, Medrano, Celia ORCID: 0000-0001-9634-7874, Arnoldy, Andrea, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce ORCID: 0000-0001-9989-9236, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A. W., Holleboom, Adriaan G., Nassogne, Marie-Cecile ORCID: 0000-0001-6936-1611, Sokal, Etienne ORCID: 0000-0001-5597-4708, Salomon, Jody, van den Bogaart, Geert ORCID: 0000-0003-2180-6735, Drenth, Joost P. H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert ORCID: 0000-0001-6710-1912, Foulquier, Francois, Marquardt, Thorsten and Lefeber, Dirk J. (2016). CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am. J. Hum. Genet., 98 (2). S. 310 - 322. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605