Authors:
Thiel, Christian
Kessler, Kristin
Giessl, Andreas
Dimmler, Arno
Rauch, Anita
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