Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature

por Al-Dosari, M.S., Almazyad, M., Al-Ebdi, L., Mohamed, J.Y., Al-Dahmash, Saad, Al-Dhibi, Hassan, Al-Kahtani, Eman, Al-Turkmani, Shahira, Alkuraya, Hisham, Hall, B.D., Alkuraya, F.S.
Publicado 2010

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

por Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P., Cornel, M. C.
Publicado 2015

Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia

por Wallmeier, J, Boon, M, Mutairi, D Al, Loges, NT, Ma, L, Chen, C-T, Olbrich, H, Pennekamp, P, Menchen, T, Dougherty, G, Werner, C, Jaspers, M, Griese, M, Horak, E, Körner-Rettberg, C, Schmitt-Grohé, S, Zimmermann, T, Hevroni, A, Abitbul, R, Avital, A, Soferman, R, Amirav, I, Mitchison, H, Jorissen, M, Alkuraya, F, Kintner, C, Omran, H
Publicado 2015