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2016
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
2011
Jones, Claire, Denecke, Jonas, Straeter, Ronald, Stoelting, Torsten, Schunicht, Yvonne, Zeuschner, Dagmar, Klumperman, Judith, Lefeber, Dirk J., Spelten, Oliver, Zarbock, Alexander, Kelm, Sorge, Strenge, Karen, Haslam, Stuart M., Luehn, Kerstin, Stahl, Dorothea, Gentile, Luca ORCID: 0000-0002-7393-7502, Schreiter, Thomas, Hilgard, Philip, Beck-Sickinger, Annette G., Marquardt, Thorsten and Wild, Martin K.
(2011).
A Novel Type of Macrothrombocytopenia Associated with a Defect in alpha 2,3-Sialylation.
Am. J. Pathol., 179 (4).
S. 1969 - 1978.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1525-2191