Browse by Journal Title

2020

A novel mutation in PIGA associated with multiple congenital anomalies-hypotonia-seizure syndrome 2 (MCAHS2) in a boy with a combination of severe epilepsy and gingival hyperplasia.
Neuhofer, C.M. and Funke, R. and Wilken, B. and Knaus, A. and Altmüller, J. and Nürnberg, P. and Li, Y. and Wollnik, B. and Burfeind, P. and Pauli, S.
Molecular Syndromology 11 (1): 30-37. February 2020

2017

Hippocampal characteristics and invariant sequence elements distribution of GLRA2 and GLRA3 C-to-U editing.
Schaefermeier, P. and Heinze, S.
Molecular Syndromology 8 (2): 85-92. March 2017