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MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K. and Yigit, G. and Martínez Grijalva, C. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Elcioglu, N.H. and Yeter, B. and Hehr, U. and Stein, A. and Della Marina, A. and Köninger, A. and Depienne, C. and Kaiser, F.J. and Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64 (10): 104310. October 2021


Improved molecular platform for the gene therapy of rare diseases by liver protein secretion.
Quiviger, M. and Giannakopoulos, A. and Verhenne, S. and Marie, C. and Stavrou, E.F. and Vanhoorelbeke, K. and Izsvák, Z. and De Meyer, S.F. and Athanassiadou, A. and Scherman, D.
European Journal of Medical Genetics 61 (11): 723-728. November 2018


Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation.
Posch, M.G. and Boldt, L.H. and Polotzki, M. and Richter, S. and Rolf, S. and Perrot, A. and Dietz, R. and Oezcelik, C. and Haverkamp, W.
European Journal of Medical Genetics 53 (4): 201-203. July 2010

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