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Number of items: 2.

2011

Lefeber, Dirk J., de Brouwer, Arjan P. M., Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H. M., Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M. R., Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen , Jozwiak, Adam , Zucker, Nili, Lorber, Avraham, Lammens, Martin , Knopf, Carlos, van Bokhoven, Hans , Gruenewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna and Wevers, Ron A. (2011) Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. PLOS Genetics 7 (12), e1002427.

2010

Morava, Eva, Wevers, Ron A. , Cantagrel, Vincent , Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen , Ng, Bobby G., Bergman, Jorieke E. H. , van Bokhoven, Hans , Körner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M. and Lefeber, Dirk J. (2010) A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 133 (11), pp. 3210-3220. Fulltext not available.

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