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Garbes, L., Kim, K., Riess, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M., Huh, Y., Kweon, H., Savarirayan, R., Amor, D., Kakadia, P. M., Lindig, T., Kagan, K. O., Becker, J., Boyadjiev, S. A., Wollnik, B., Semler, O., Bohlander, S. K., Netzer, C. and Kim, J. (2015). Mutations in SEC24D Cause a Syndromic Form of Osteogenesis Imperfecta with Craniofacial Dysplasia. Mol. Biol. Cell, 26. BETHESDA: AMER SOC CELL BIOLOGY. ISSN 1939-4586
Hoyer-Kuhn, H., Franklin, J., Allo, G., Kron, M., Netzer, C., Eysel, P., Hero, B., Schoenau, E. and Semler, O. (2016). Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial. J. Musculoskelet. Neuronal Interact., 16 (1). S. 24 - 33. NAFPLION: JMNI. ISSN 1108-7161
Lehnen, H., Schwennicke, G., Maiwald, R., Kunstmann, E., Kaiser, F. and Netzer, C. (2016). Prenatal Diagnosis - sonographic Abnormalities in two Pregnancies of a Family with a fetal renal tubular Dysgenesis and a Cornelia de Lange Syndrome. Geburtshilfe Frauenheilkd., 76 (5). STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804
Moosa, S., Chung, B. H. -Y., Tung, J. Y. -L., Altmueller, J., Thiele, H., Nuernberg, P., Netzer, C., Nishimura, G. and Wollnik, B. (2016). Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin. Genet., 89 (4). S. 517 - 520. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004
Moosa, S., Yamamoto, G. L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C. A., Valadares, E. R., de Sousa, S. B., Maia, S., Saraiva, J., Honjo, R. S., Kim, C. A., Cabral de Menezes, H., Lausch, E., Lorini, P. V., Lamounier, A., Jr., Carniero, T. C. B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmuller, J., Nurnberg, P., Cavalcanti, D. P., Zabel, B., Warman, M. L., Bertola, D. R., Wollnik, B. and Netzer, C. (2020). Severe Osteogenesis imperfecta with oligodontia: think of MESD. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 248 - 250. LONDON: SPRINGERNATURE. ISSN 1476-5438
Semler, O., Hoyer-Kuhn, H. and Netzer, C. (2012). Osteogenesis imperfecta. Med. Genet., 24 (4). S. 297 - 312. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490
Velmans, C., O'Donnell-Luria, A., Argilli, E., Tran-Mau-Them, F., Vitobello, A., Rech, M., Abicht, A., Aubert-Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., de Dios, K., Funalot, B., Joseph, M., Kenendy, C., van de Laar, I., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L., Paterson, H., Ramanathan, S., Sherr, E., Netzer, C., Schaaf, C. and Erger, F. (2020). Refining the phenotypic & mutational spectrum in a multinational cohort of O'Donnell-Luria-Rodan Syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 347 - 349. LONDON: SPRINGERNATURE. ISSN 1476-5438