Targeted testing for DNAI1 hot spot-mutation utilizing immunofluorescence microscopy findings

por Szczepaniak, M, Loges, NT, Olbrich, H, Witt, M, Omran, H
Publicado 2012

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility

por Aprea, I., Wilken, A., Krallmann, C., Nöthe-Menchen, T., Olbrich, H., Loges, N. T., Dougherty, G. W., Bracht, D., Brenker, C., Kliesch, S., Strünker, T., Tüttelmann, F., Raidt, J., Omran, H.
Publicado 2023

Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms

por Schmidts, M, Freshour, J, Loges, NT, Dritsoula, A, Antony, D, Hirst, RA, O’Callaghan, C, Blau, H, Olbrich, H, Yagi, T, Mussaffi, H, Chung, EMK, Omran, H, Mitchell, DR, Mitchison, H
Publicado 2012

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

por Antony, D, Becker-Heck, A, Forouhan, M, Schmidts, M, Onoufriadis, A, Shoemark, A, Dixon, M, Jackson, C, Goggin, P, Olbrich, H, O’Callaghan, C, Lucas, J, Hogg, C, Chung, EMK, Omran, H, Mitchison, HM
Publicado 2012

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