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Number of items: 5.

Journal Article

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Seefried, Lothar, Genest, Franca, Kornak, Uwe, Semler, Oliver, Barvencik, Florian and Hofmann, Christine (2020). Treatments for Hypophosphatasia. Osteologie, 29 (4). S. 275 - 283. STUTTGART: GEORG THIEME VERLAG KG. ISSN 2567-5818

Seifert, Wenke, Posor, York, Schu, Peter, Stenbeck, Gudrun, Mundlos, Stefan, Klaassen, Sabine, Nuernberg, Peter, Haucke, Volker, Kornak, Uwe and Kuehnisch, Jirko (2016). The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Hum. Mol. Genet., 25 (17). S. 3836 - 3849. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Semler, Oliver, Kornak, Uwe, Oheim, Ralf and Seefried, Lothar (2020). Pathophysiology and therapeutic options in osteogenesis imperfecta. Osteologie, 29 (4). S. 302 - 311. STUTTGART: GEORG THIEME VERLAG KG. ISSN 2567-5818

Siggelkow, Heide, Kornak, Uwe, Oheim, Ralf, Barvencik, Florian, Semler, Oliver, Obermayer-Pietsch, Barbara, Jakob, Franz, Seefried, Lothar, Hofmann, Christine, Lehmann, Gabriele, Jundt, Gernot, Brenner, Rolf, Meier, Christian, Gluer, Claus C. and Grasemann, Corinna (2020). Founding of the German speaking Network for Rare Bone Diseases NetsOs - through an Initiative of the German Society of Osteology (DGO). Osteologie, 29 (4). S. 259 - 266. STUTTGART: GEORG THIEME VERLAG KG. ISSN 2567-5818

This list was generated on Sat Mar 6 03:58:18 2021 CET.