Einträge von Morava, Eva auf dem Publikationsserver

Morava, Eva, Vodopiutz, Julia , Lefeber, Dirk J., Janecke, Andreas R. , Schmidt, Wolfgang M. , Lechner, Silvia, Item, Chike B., Sykut-Cegielska, Jolanta, Adamowicz, Maciej, Wierzba, Jolanta , Zhang, Zong H., Mihalek, Ivana, Stockler, Sylvia, Bodamer, Olaf A., Lehle, Ludwig und Wevers, Ron A. (2012) Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations. Pediatrics 130 (4), e1034-e1039. Volltext nicht vorhanden.

Timal, Sharita, Hoischen, Alexander , Lehle, Ludwig, Adamowicz, Maciej, Huijben, Karin, Sykut-Cegielska, Jolanta, Paprocka, Justyna, Jamroz, Ewa, van Spronsen, Francjan J., Körner, Christian, Gilissen, Christian , Rodenburg, Richard J. , Eidhof, Ilse , Van den Heuvel, Lambert, Thiel, Christian, Wevers, Ron A. , Morava, Eva, Veltman, Joris und Lefeber, Dirk J. (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Human Molecular Genetics 21 (19), S. 4151-4161. Volltext nicht vorhanden.

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 und Wevers, Ron A. (2011) Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. PLOS Genetics 7 (12), e1002427.

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. und Lefeber, Dirk J. (2010) A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 133 (11), S. 3210-3220. Volltext nicht vorhanden.

Lefeber, Dirk J., Schönberger, Johannes, Morava, Eva, Guillard, Mailys, Huyben, Karin M., Verrijp, Kiek, Grafakou, Olga, Evangeliou, Athanasios, Preijers, Frank W., Manta, Panagiota, Yildiz, Jef, Grünewald, Stephanie, Spilioti, Martha, van den Elzen, Christa, Klein, Dominique, Hess, Daniel, Ashida, Hisashi , Hofsteenge, Jan, Maeda, Yusuke, van den Heuvel, Lambert, Lammens, Martin , Lehle, Ludwig und Wevers, Ron A. (2009) Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies. The American Journal of Human Genetics 85 (1), S. 76-86. Volltext nicht vorhanden.