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Number of items: 8.

Journal Article

Dimopoulou, Aikaterini, Fischer, Bjorn, Gardeitchik, Thatjana, Schroeter, Phillipe, Kayserili, Hullya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco ORCID: 0000-0002-6069-0993, Spaich, Christiane, Fletcher, Elaine, Mahayri, Zeina, Bhat, Meenakshi, Girisha, Katta M., Lachlan, Katherine, Johnson, Diana, Phadke, Shubha ORCID: 0000-0002-6624-082X, Gupta, Neerja, Simandlova, Martina, Kabra, Madhulika, David, Albert, Nijtmans, Leo, Chitayat, David, Tuysuz, Beyhan ORCID: 0000-0002-9620-5021, Brancati, Francesco, Mundlos, Stefan, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Morava, Eva, Wollnik, Bernd and Kornak, Uwe (2013). Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol. Genet. Metab., 110 (3). S. 352 - 362. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1096-7206

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

Fischer, Bjoern, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha ORCID: 0000-0002-6624-082X, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti ORCID: 0000-0002-1223-3181, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A. ORCID: 0000-0003-2278-9746, van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva and Kornak, Uwe (2012). Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum. Genet., 131 (11). S. 1761 - 1774. NEW YORK: SPRINGER. ISSN 0340-6717

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

Zemojtel, Tomasz, koehler, Sebastian, Mackenroth, Luisa, Jaeger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte ORCID: 0000-0002-0583-4683, Oien, Nancy Christine, Schweiger, Michal R., Krueger, Ulrike, Frommer, Goetz, Fischer, Bjoern, Kornak, Uwe, Floettmann, Ricarda, Ardeshirdavani, Amin ORCID: 0000-0002-7226-7324, Moreau, Yves, Lewis, Suzanna E., Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan and Robinson, Peter N. (2014). Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci. Transl. Med., 6 (252). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

This list was generated on Tue Jun 22 07:23:37 2021 CEST.