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

由 Guven Y., Altunoglu U., Aktoren O., Uyguner Z.O., Kayserili H., Kaewkahya M., Kantaputra P.N.
出版 2014

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

由 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
出版 2020

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

由 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
出版 2020