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Journal Article
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