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Page 1
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Broughton BC, Cordonnier A, Kleijer WJ, Jaspers NG, Fawcett H, Raams A, Garritsen VH, Stary A, Avril MF, Boudsocq F, Masutani C, Hanaoka F, Fuchs RP, Sarasin A, Lehmann AR. Broughton BC, et al. Among authors: garritsen vh. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):815-20. doi: 10.1073/pnas.022473899. Epub 2002 Jan 2. Proc Natl Acad Sci U S A. 2002. PMID: 11773631 Free PMC article.
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG. Kleijer WJ, et al. Among authors: garritsen vh. J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877. J Inherit Metab Dis. 2002. PMID: 12408190
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ. Kleijer WJ, et al. Among authors: garritsen vh. Prenat Diagn. 2001 Feb;21(2):99-101. doi: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11241534
First-trimester diagnosis of Morquio disease type A.
Kleijer WJ, Geilen GC, Garritsen V, Huijmans JG, Los FJ, Voznyi YV, van Diggelen OP. Kleijer WJ, et al. Prenat Diagn. 2000 Mar;20(3):183-5. Prenat Diagn. 2000. PMID: 10719317