1. The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014. (29th July 2015) Authors: Marschall, K.; Hoernes, M.; Bitzenhofer‐Grüber, M.; Jandus, P.; Duppenthaler, A.; Wuillemin, W. A.; Rischewski, J.; Boyman, O.; Heininger, U.; Hauser, T.; Steiner, U.; Posfay‐Barbe, K.; Seebach, J.; Recher, M.; Hess, C.; Helbling, A.; Reichenbach, J.; for the Swiss PID Registry Working Group Journal: Clinical and experimental immunology Issue: Volume 182:Number 1(2015:Oct.) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening. (5th September 2016) Authors: Marquardt, L.; Lacour, M.; Hoernes, M.; Opitz, L.; Lecca, R.; Volkmer, B.; Reichenbach, J.; Hohl, D.; Ansari, M.; Ozsahin, H.; Güngör, T.; Pachlopnik Schmid, J. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 31:Number 3(2017) Page Start: e147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗