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Number of items: 3.

Budisteanu, M., Boegershausen, N., Papuc, S. M., Moosa, S., Thoenes, M., Riga, D., Arghir, A. and Wollnik, B. (2018). FLOATING-HARBOR SYNDROME: PRESENTATION OF THE FIRST ROMANIAN PATIENT WITH A SRCAP MUTATION AND REVIEW OF THE LITERATURE. Balk. J. Med. Gen., 21 (1). S. 83 - 87. SKOPJE: MACEDONIAN ACAD SCIENCES ARTS. ISSN 1311-0160

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

This list was generated on Sun Apr 28 03:20:37 2024 CEST.