2021

MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K. ORCID: https://orcid.org/0000-0003-4765-0572, Yigit, G., Martínez Grijalva, C. ORCID: https://orcid.org/0000-0002-0901-376X, Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B. ORCID: https://orcid.org/0000-0002-6255-1057, Hehr, U., Stein, A., Della Marina, A., Köninger, A., Depienne, C., Kaiser, F.J., Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64 (10): 104310. October 2021

2018

Improved molecular platform for the gene therapy of rare diseases by liver protein secretion.
Quiviger, M., Giannakopoulos, A., Verhenne, S., Marie, C., Stavrou, E.F., Vanhoorelbeke, K., Izsvák, Z. ORCID: https://orcid.org/0000-0002-2053-2384, De Meyer, S.F., Athanassiadou, A. and Scherman, D.
European Journal of Medical Genetics 61 (11): 723-728. November 2018

2010

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation.
Posch, M.G., Boldt, L.H., Polotzki, M., Richter, S., Rolf, S., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Dietz, R., Oezcelik, C. and Haverkamp, W.
European Journal of Medical Genetics 53 (4): 201-203. July 2010