Publications

Found 1 results
Filters: First Letter Of Last Name is S and Author is Smeland, Marie Falkenberg  [Clear All Filters]
2025
Kröll-Hermi, A., Stoetzel, C., Etard, C., Halabelian, L., Schaefer, E., Scheidecker, S., Kahrizi, K., Payman, J., Geoffroy, V., Prasad, M., Obringer, C., Ruch, L., Girard, A., Zeng, H., Li, F., Plassard, D., Keime, C., Mattioli, F., Feger, C., Piton, A., Fujita, A., Matsumoto, N., Castro, M. Augusto Ar, Ae, K. Chong, Ruaud, L., Levy, J., Dozières, B., Tabet, A. - C., Wentzensen, I. M., Santiago-Sim, T., Yusupov, R., Tveten, K., Smeland, M. Falkenberg, Alkhunaizi, E., Cowing, G., Li, C., Wortmann, S. B., Feichtinger, R. G., Mayr, J. A., Gonorazky, H., Jing, G., Wang, X., Wang, J., Bierhals, T., Grinstein, L., Herget, T., Ruiz, A., Gabau, E., Kampmeier, A., Kassel, O., Kuechler, A., Platzer, K., Jamra, R. Abou, Woerner, A., Idleburg, M., Kircher, S. Gerit, Laccone, F., Golob, B., Peterlin, B., Čuturilo, G., Tasic, V., Kolvenbach, C. M., Hildebrandt, F., Ramos, L. L. P., Kok, F., Buck, C. Barbosa, van de Laar, I. M. B. H., de Man, S. A., Taşdelen, E., Sezer, A., Büke, A., Yavuz, Z., Çomoğlu, S. Selçuk, Costin, C., Them, F. Tran Mau, Lacaze, E., Courtin, T., Héron, D., Keren, B., Whalen, S., Roume, J., Yang, Y., Hoffer, M. J. V., van Haeringen, A., Najmabadi, H., Arrowsmith, C. H., Strähle, U., Dollfus, H., and Muller, J. (2025) Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability. Am J Hum Genet. 10.1016/j.ajhg.2025.10.014