2021
MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K., Yigit, G., Martínez Grijalva, C., Altmüller, J., Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B., 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., 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., Dietz, R., Oezcelik, C. and Haverkamp, W.
European Journal of Medical Genetics 53
(4): 201-203.
July 2010
This list was generated on Sun Oct 13 03:32:53 2024 UTC.