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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. ; Lefeber, Dirk J.
; 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. ; Lefeber, Dirk J. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
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.
Date of publication of this fulltext: 19 Dec 2024 11:31
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| Item type | Article | ||||
| Journal or Publication Title | Brain | ||||
| Publisher: | OXFORD UNIV PRESS | ||||
|---|---|---|---|---|---|
| Place of Publication: | OXFORD | ||||
| Volume: | 133 | ||||
| Number of Issue or Book Chapter: | 11 | ||||
| Page Range: | pp. 3210-3220 | ||||
| Date | 2010 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) | ||||
| Identification Number |
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| Keywords | AUTOSOMAL RECESSIVE SYNDROME; CONGENITAL DISORDERS; CHARGE-SYNDROME; MENTAL-RETARDATION; JOUBERT-SYNDROME; CDG; MUTATIONS; GENE; BIOSYNTHESIS; SPECTRUM; congenital disorders of glycosylation; SRD5A3-CDG; CDG type Iq; glycosylation; dolichol metabolism; polyprenol reductase; SRD5A3; vermis hypoplasia; coloboma; cataract; glaucoma | ||||
| Dewey Decimal Classification | 500 Science > 580 Botanical sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 65603 |
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