Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals
Gooijer, Koert, Rondeel, Jan M. M., Dijk, Fleur S., Harsevoort, Arjan G. J., Janus, Guus J. M., Franken, Anton A. M.
Published in British journal of haematology (01.11.2019)
Published in British journal of haematology (01.11.2019)
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Journal Article
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
van Dijk, Fleur S., Semler, Oliver, Etich, Julia, Köhler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen-Lisset, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J.M., Franken, Anton A.M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G.J., Santen, Gijs W.E., Nüchel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M.W., Pals, Gerard, Mörgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank, Micha, Dimitra
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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Journal Article
A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta
Gooijer, Koert, Harsevoort, Arjan G J, Dijk, Fleur S, Withaar, Hendrikje (Rik), Janus, Guus J M, Franken, Anton A M
Published in JBMR plus (01.12.2020)
Published in JBMR plus (01.12.2020)
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Journal Article
Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements
Scheres, Luuk J.J., van Dijk, Fleur S., Harsevoort, Arjan J., van Dijk, Atty T.H., Dommisse, Anne Marieke, Janus, Guus J.M., Franken, Anton A.M.
Published in Bone Reports (01.06.2018)
Published in Bone Reports (01.06.2018)
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Journal Article
A male with limited movement in the forearm
Scheres, Luuk J J, Janus, Guus J M, Franken, Anton A M
Published in Nederlands tijdschrift voor geneeskunde (2014)
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Published in Nederlands tijdschrift voor geneeskunde (2014)
Journal Article
Pyridinium Cross‐Links in Bone of Patients with Osteogenesis Imperfecta: Evidence of a Normal Intrafibrillar Collagen Packing
Bank, Ruud A., Tekoppele, Johan M., Janus, Guus J. M., Wassen, Maurice H. M., Pruijs, Hans E. H., van der Sluijs, Hans A. H., Sakkers, Ralph J. B.
Published in Journal of bone and mineral research (01.07.2000)
Published in Journal of bone and mineral research (01.07.2000)
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Journal Article