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) ↗
2. Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. (November 2017) Authors: Sinnige, P.F.; van Ravenswaaij-Arts, C.M.A.; Caruso, P.; Lin, A.E.; Boon, M.; Rahikkala, E.; Callewaert, B.; Meiners, L.C. Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗