Items where Author is "Lefeber, Dirk J."

Article

Morava, Eva and Vodopiutz, Julia and Lefeber, Dirk J. and Janecke, Andreas R. and Schmidt, Wolfgang M. and Lechner, Silvia and Item, Chike B. and Sykut-Cegielska, Jolanta and Adamowicz, Maciej and Wierzba, Jolanta and Zhang, Zong H. and Mihalek, Ivana and Stockler, Sylvia and Bodamer, Olaf A. and Lehle, Ludwig and Wevers, Ron A. (2012) Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations. PEDIATRICS, 130 (4). E1034-E1039. ISSN 0031-4005

Timal, Sharita and Hoischen, Alexander and Lehle, Ludwig and Adamowicz, Maciej and Huijben, Karin and Sykut-Cegielska, Jolanta and Paprocka, Justyna and Jamroz, Ewa and van Spronsen, Francjan J. and Koerner, Christian and Gilissen, Christian and Rodenburg, Richard J. and Eidhof, Ilse and Van den Heuvel, Lambert and Thiel, Christian and Wevers, Ron A. and Morava, Eva and Veltman, Joris and Lefeber, Dirk J. (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. HUMAN MOLECULAR GENETICS, 21 (19). pp. 4151-4161. ISSN 0964-6906

Lefeber, Dirk J. and de Brouwer, Arjan P. M. and Morava, Eva and Riemersma, Moniek and Schuurs-Hoeijmakers, Janneke H. M. and Absmanner, Birgit and Verrijp, Kiek and van den Akker, Willem M. R. and Huijben, Karin and Steenbergen, Gerry and van Reeuwijk, Jeroen and Jozwiak, Adam and Zucker, Nili and Lorber, Avraham and Lammens, Martin and Knopf, Carlos and van Bokhoven, Hans and Gruenewald, Stephanie and Lehle, Ludwig and Kapusta, Livia and 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. ISSN 1553-7404

Cantagrel, Vincent and Lefeber, Dirk J. and Ng, Bobby G. and Guan, Ziqiang and Silhavy, Jennifer L. and Bielas, Stephanie L. and Lehle, Ludwig and Hombauer, Hans and Adamowicz, Maciej and Swiezewska, Ewa and De Brouwer, Arjan P. and Bluemel, Peter and Sykut-Cegielska, Jolanta and Houliston, Scott and Swistun, Dominika and Ali, Bassam R. and Dobyns, William B. and Babovic-Vuksanovic, Dusica and van Bokhoven, Hans and Wevers, Ron A. and Raetz, Christian R. H. and Freeze, Hudson H. and Morava, Eva and Al-Gazali, Lihadh and Gleeson, Joseph G. (2010) SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. CELL, 142 (2). pp. 203-217. ISSN 0092-8674, 1097-4172

Morava, Eva and Wevers, Ron A. and Cantagrel, Vincent and Hoefsloot, Lies H. and Al-Gazali, Lihadh and Schoots, Jeroen and van Rooij, Arno and Huijben, Karin and van Ravenswaaij-Arts, Connie M. A. and Jongmans, Marjolein C. J. and Sykut-Cegielska, Jolanta and Hoffmann, Georg F. and Bluemel, Peter and Adamowicz, Maciej and van Reeuwijk, Jeroen and Ng, Bobby G. and Bergman, Jorieke E. H. and van Bokhoven, Hans and Koerner, Christian and Babovic-Vuksanovic, Dusica and Willemsen, Michel A. and Gleeson, Joseph G. and Lehle, Ludwig and 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. pp. 3210-3220. ISSN 0006-8950

Lefeber, Dirk J. and Schoenberger, Johannes and Morava, Eva and Guillard, Mailys and Huyben, Karin M. and Verriip, Kiek and Grafakou, Olga and Evangelioi, Athanasios and Preijers, Frank W. and Manta, Panagiota and Yildiz, Jef and Gruenewald, Stephanie and Spilioti, Martha and van den Elzen, Christa and Klein, Dominique and Hess, Daniel and Ashida, Hisashi and Hofsteenge, Jan and Maeda, Yusuke and van den Heuvel, Lambert and Lammens, Martin and Lehle, Ludwig and Wevers, Ron A. (2009) Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (1). pp. 76-86. ISSN 0002-9297, 1537-6605