Gene identification in the congenital disorders of glycosylation type i by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle, Maciej Adamowicz, Karin Huijben, Jolanta Sykut-cegielska, Justyna Paprocka, Ewa Jamroz, Francjan J. Van spronsen, Christian Körner, Christian Gilissen, Richard J. Rodenburg, Ilse Eidhof, Lambert Van den heuvel, Christian Thiel, Ron A. Wevers, Eva Morava, Joris Veltman, Dirk J. Lefeber

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Medicine & Life Sciences