Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome von Niceta, M., Margiotti, K., Digilio, M.C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M.L., Consoli, F., Torrente, I., Ruiz‐Perez, V.L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.

Volltext

Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development von Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H.J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V.L., Goodship, J.A., Peters, H.

Volltext

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review von Gordo, G., Tenorio, J., Arias, P., Santos‐Simarro, F., García‐Miñaur, S., Moreno, J.C., Nevado, J., Vallespin, E., Rodriguez‐Laguna, L., de Mena, R., Dapia, I., Palomares‐Bralo, M., del Pozo, Á., Ibañez, K., Silla, J.C., Barroso, E., Ruiz‐Pérez, V.L., Martinez‐Glez, V., Lapunzina, P.

Volltext

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 von Dijk, F.S. van, Semler, O., Etich, J., Kohler, A., Jimenez-Estrada, J.A., Bravenboer, N., Claeys, L., Riesebos, E., Gegic, S., Piersma, S.R., Jimenez, C.R., Waisfisz, Q., Flores, C.L., Nevado, J., Harsevoort, A.J., Janus, G.J.M., Franken, A.A.M., Sar, A.M. van der, Meijers-Heijboer, H., Heath, K.E., Lapunzina, P., Nikkels, P.G.J., Santen, G.W.E., Nuchel, J., Plomann, M., Wagener, R., Rehberg, M., Hoyer-Kuhn, H., Eekhoff, E.M.W., Pals, G., Morgelin, M., Newstead, S., Wilson, B.T., Ruiz-Perez, V.L., Maugeri, A., Netzer, C., Zaucke, F., Micha, D.

Volltext bestellen