Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

بواسطة Guven Y., Altunoglu U., Aktoren O., Uyguner Z.O., Kayserili H., Kaewkahya M., Kantaputra P.N.
منشور في 2014

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

بواسطة Oud, M.M, Bonnard, C, Mans, D.A, Altunoglu, U, Tohari, S, Ng, A.Y.J, Eskin, A, Lee, H, Rupar, C.A, Wagenaar, N.P, Wu, K.M, Lahiry, P, Pazour, G.J, Nelson, S.F, Hegele, R.A, Roepman, R, Kayserili, H, Venkatesh, B, Siu, V.M, Reversade, B, Arts, H.H
منشور في 2020

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

بواسطة Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, J.G, Singh, M.K, Epstein, J.A, Altunoglu, U, Verzijl, H, Soria, L, Van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, De Brouwer, A.P.M, Erasmus, C, Schubert, D, Brunner, H, Pérez Aytés, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, De Wind, N, Padberg, G.W, Van Bokhoven, H
منشور في 2020