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., Funke, R., Wilken, B., Knaus, A., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Li, Y., Wollnik, B., 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