Items where Author is "Bluemel, Peter"

Article

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