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

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

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

by 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
Published 2020

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

by 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
Published 2020