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2022
Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. 
ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd
(2022).
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front. Cell. Dev. Biol., 10.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 2296-634X
2020
Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke
(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.
Mol. Syndromol., 11 (1).
S. 30 - 38.
BASEL:
KARGER.
ISSN 1661-8777