1. Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, Myelodysplastic Syndrome and Neurological Symptoms. (April 2017) Authors: Tesi, B.; Davidsson, J.; Voss, M.; Rahikkala, E.; Holmes, T.; Chiang, S.; Komulainen-Ebrahim, J.; Kokkonen, H.; Bryder, D.; Fioretos, T.; Henter, J.I.; Möttönen, M.; Niinimäki, R.; Nilsson, L.; Pronk, C.J.; Uusimaa, J.; Moilanen, J.; Tedgård, U.; Cammenga, J.; Bryceson, Y. Journal: Leukemia research Issue: Volume 55(2017)Supplement 1 Page Start: S11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗