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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
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
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
Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin
.
Nephropathic cystinosis in Poland a 40-year retrospective study.
Pol. Intern. Med..
KRAKOW:
MEDYCYNA PRAKTYCZNA SP K SP ZOO.
ISSN 1897-9483
Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin
(2022).
Nephropathic cystinosis in Poland: a 40-year retrospective study.
Pol. Intern. Med., 132 (11).
KRAKOW:
MEDYCYNA PRAKTYCZNA SP K SP ZOO.
ISSN 1897-9483