Maintenance work on the ZORA databases is scheduled for Wednesday 22 May 2019 from 20:00-22:00. During this period ZORA and JDB will not be available. Thank you for your understanding.
Martin, Florence; Kana, Veronika; Mori, Andrea Capone; Fischer, Dirk; Parkin, Nicolas; Boltshauser, Eugen; Rushing, Elisabeth Jane; Klein, Andrea (2014). Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. European Journal of Pediatrics, 173(12):1691-1694.