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Browsing by Author Kleijer, W.J.

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Showing results 1 to 8 of 8
Full TextIssue DateTitleAuthor(s)
2004Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.Hermans, M.M.P.; Leenen, D. van; Kroos, M.A.; Beesley, C.E.; Ploeg, A.T. van der, et al
1997Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueBoot, R.G.; Hollak, C.E.M.; Verhoek, M.; Sloof, P.; Poorthuis, B.J.H.M., et al
1997Molecular analysis of the ß-glucuronidase gene: novel mutatations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation regionVervoort, R.; Buist, N.R.M.; Kleijer, W.J.; Wevers, R.; Fryns, J.-P., et al
1996Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.Ausems, M.G.E.M.; Kroos, M.A.; Kraan, M. van der; Smeitink, J.A.M.; Kleijer, W.J., et al
1996Molecular basis of androgen insensitivityBrüggenwirth, H.T.; Boehmer, A.L.M.; Verleun-Mooijman, M.C.T.; Hoogenboezem, T.; Kleijer, W.J., et al
1996Xeroderma pigmentosum-Cockayne syndrome complex : a further caseHamel, B.C.J.; Raams, A.; Schuitema-Dijkstra, A.R.; Simons, P.J.; Burgt, C.J.A. van der, et al
1995Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinLigtenberg, M.J.L.; Kemp, S.; Sarde, C.O.; Geel, B.M. van; Kleijer, W.J., et al
1995Glycogen storage disease type II : frequency of three common mutant alleles and their associated clinical phenotypes studies in 121 patientsKroos, M.A.; Kraan, M. van der; Diggelen, O.P. van; Kleijer, W.J.; Reuser, A.J.J., et al
Showing results 1 to 8 of 8

 

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