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2012

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 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. Fulltext not available.

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