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The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.
Zwamborn-Hanssen AM, Bijlsma JB, Hennekam EF, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CE, Duran M, van Gennip AH, van Mens JT, Pearson PL, Mantel G, Verhage RE, Geraedts JP. Zwamborn-Hanssen AM, et al. Among authors: kleijer wj. Am J Med Genet. 1997 Jun 27;70(4):444-7. doi: 10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9182789
Coexistence of Gaucher disease type 1 and Joubert syndrome.
van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JM, Hopwood JJ, Beemer FA. van Royen-Kerkhof A, et al. Among authors: kleijer wj. J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965. J Med Genet. 1998. PMID: 9832051 Free PMC article. No abstract available.
Prenatal diagnosis of Niemann-Pick disease type C.
de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ. de Winter JM, et al. Among authors: kleijer wj. Clin Chim Acta. 1992 Jun 30;208(3):173-81. doi: 10.1016/0009-8981(92)90074-z. Clin Chim Acta. 1992. PMID: 1499136
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. Hamel BC, et al. Among authors: kleijer wj. J Med Genet. 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. J Med Genet. 1996. PMID: 8818951 Free PMC article.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: kleijer wj. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.
207 results