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Citation: Thiel, Christian et al., NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 106-114

Authors: Schwarz, Markus Thiel, Christian Lübbehusen, Jürgen Dorland, Bert de Koning, Tom von Figura, Kurt Lehle, Ludwig Körner, Christian

Citation: Schwarz, Markus et al., Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik, American journal of human genetics , 74(3), 2004, pp. 472-481