Disseminated aspergillosis in a premature neonate von Meessen, N E, Oberndorff, K M, Jacobs, J A

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Shashi, V, Pena, LD, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Undiagnosed Diseases Network, Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CT, Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkilä, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB, Kortüm, F

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A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease von Volker-Touw, N, de Koning, H, van Kempen, T, Oberndorff, K, van Steensel, M, Giltay, J, Boes, M, de Kovel, C, Simon, A, Frenkel, J, van Gijn, M

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