Search Results - Otaify, G.

Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium by Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., Ruiz-Perez, V.

Get full text

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta by Caparrós-Martín, Jose, Aglan, M., Temtamy, S., Otaify, G., Valencia, M., Nevado, J., Vallespin, E., Del Pozo, A., Prior de Castro, C., Calatrava-Ferreras, L., Gutierrez, P., Bueno, A., Sagastizabal, B., Guillen-Navarro, E., Ballesta-Martinez, M., Gonzalez, V., Basaran, S., Buyukoglan, R., Sarikepe, B., Espinoza-Valdez, C., Cammarata-Scalisi, F., Martinez-Glez, V., Heath, K., Lapunzina, P., Ruiz-Perez, V.

Get full text

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy by Estañ, M., Fernández-Núñez, E., Zaki, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, Jose, Saade, D., Hu, Y., Bolduc, V., Chao, K., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E., Martinez-Glez, V., Carvajal, J., Zong, R., Nelson, D., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Yoon, G., Ruiz-Perez, V.

Get full text