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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
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
Schneider, S., Riessland, M., Kaczmarek, A., Swoboda, K. J., Loehr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Kroeber, S., Hoelker, I., Garbes, L., Gilissen, C., Hoischen, A., Nuernberg, G., Nuernberg, P., Walter, M., Rigo, F., Bennett, C. F., Kye, M. J., Hart, A. C., Hammerschmidt, M., Kloppenburg, P. and Wirth, B. (2018). Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy. Eur. J. Hum. Genet., 26. S. 55 - 57. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438