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Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P. Deprez L, et al. Among authors: matthijs g. Epilepsia. 2008 Mar;49(3):500-8. doi: 10.1111/j.1528-1167.2007.01415.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028407 Free article.
Familial temporal lobe epilepsy with febrile seizures.
Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, Wilms G. Depondt C, et al. Among authors: matthijs g. Neurology. 2002 May 14;58(9):1429-33. doi: 10.1212/wnl.58.9.1429. Neurology. 2002. PMID: 12011300
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K. De Leeneer K, et al. Among authors: matthijs g. Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28. Breast Cancer Res Treat. 2012. PMID: 22370629 Free article.
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Among authors: matthijs g. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J. Regal L, et al. Among authors: matthijs g. Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649519 Free PMC article.
347 results