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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: paprocka j. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
Angelman syndrome revisited.
Paprocka J, Jamroz E, Szwed-Białozyt B, Jezela-Stanek A, Kopyta I, Marszał E. Paprocka J, et al. Neurologist. 2007 Sep;13(5):305-12. doi: 10.1097/01.nrl.0000253067.32759.aa. Neurologist. 2007. PMID: 17848870
81 results