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, 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.
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