Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunismMAASSEN, J. A; LINDHOUT, D; REUSS, A et al.Prenatal diagnosis. 1990, Vol 10, Num 1, pp 13-16, issn 0197-3851, 4 p.Article

Prenatal diagnosis of the Huerler syndrome: report on 40 pregnancies at riskKLEIJER, W. J; THOMPSON, E. J; NIERMEIJER, M. F et al.Prenatal diagnosis. 1983, Vol 3, Num 3, pp 179-186, issn 0197-3851Article

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group DKLEIJER, W. J; BEEMER, F. A; BOOM, B. W et al.American journal of medical genetics. 1994, Vol 52, Num 2, pp 227-230, issn 0148-7299Article

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assayKEULEMANS, J. L. M; SINIGERSKA, I; GARRITSEN, V. H et al.Prenatal diagnosis. 2002, Vol 22, Num 11, pp 1016-1021, issn 0197-3851, 6 p.Article

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variantsVOZNYI, Y. V; KEULEMANS, J. L. M; MANCINI, G. M. S et al.Journal of medical genetics. 1999, Vol 36, Num 6, pp 471-474, issn 0022-2593Article

Two distinct deletions in the IDS gene and the gene W : A novel type of mutation associated with the Hunter syndromeKARSTEN, S. L; LAGERSTEDT, K; CARLBERG, B.-M et al.Genomics (San Diego, Calif.). 1997, Vol 43, Num 2, pp 123-129, issn 0888-7543Article

Amniotic fluid odd-chain fatty acids are increased in propionic acidaemiaCOKER, M; DURAN, M; DE KLERK, J. B. C et al.Prenatal diagnosis. 1996, Vol 16, Num 10, pp 941-944, issn 0197-3851Article

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimestersKLEIJER, W. J; VAN DER KRAAN, M; HUIJMANS, J. G. M et al.Prenatal diagnosis. 1995, Vol 15, Num 6, pp 527-533, issn 0197-3851Article

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3VERMEULEN, W; SCOTT, R. J; RODGERS, S et al.American journal of human genetics. 1994, Vol 54, Num 2, pp 191-200, issn 0002-9297Article

Prenatal diagnosis of Sanfilippo disease type BKLEIJER, W. J; HUIJMANS, J. G. M; BLOM, W et al.Human genetics. 1984, Vol 66, Num 4, pp 287-288, issn 0340-6717Article

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophyLINNEBANK, M; KEMP, S; SCHLEGEL, U et al.Neurology. 2006, Vol 66, Num 3, pp 442-443, issn 0028-3878, 2 p.Article

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisKLEIJER, W. J; VAN DIGGELEN, O. P; LOS, F. J et al.Prenatal diagnosis. 2001, Vol 21, Num 2, pp 99-101, issn 0197-3851Article

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisDE VRIES, B. B. A; KLEIJER, W. J; TASCHNER, P. E. M et al.Prenatal diagnosis. 1999, Vol 19, Num 6, pp 559-562, issn 0197-3851Article

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyVAN KUILENBURG, A. B. P; VREKEN, P; CHRISTENSEN, E et al.Human genetics. 1999, Vol 104, Num 1, pp 1-9, issn 0340-6717Article

Identification of a common mutation (R245H) in Sanfilippo A patients from the NetherlandsWEBER, B; VAN DE KAMP, J. J. P; KLEIJER, W. J et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 416-422, issn 0141-8955Article

Gyrate atrophy associated with unusual clinical & laboratory findings in two siblingsKALAYCI, D; GOKMEN, H; HASIRIPI, H et al.Annals of ophthalmology. Glaucoma. 1997, Vol 29, Num 3, pp 193-196, issn 1079-4794Article

Prenatal diagnosis of glycogen storage disease type II : enzyme assay or mutation analysis ?KLEIJER, W. J; VAN DER KRAAN, M; KROOS, M. A et al.Pediatric research. 1995, Vol 38, Num 1, pp 103-106, issn 0031-3998Article

β-glucuronidase deficiency as a cause of fetal hydropsKAGIE, M. J; KLEIJER, W. J; HUIJMANS, J. G. M et al.American journal of medical genetics. 1992, Vol 42, Num 5, pp 693-695, issn 0148-7299Article

Complementation studies in human and caprine β-mannosidosisHU, P; WENGER, D. A; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 1, pp 13-17, issn 0141-8955, 5 p.Article

Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assayZHAO, H; VAN DIGGELEN, O. P; THOOMES, R et al.Prenatal diagnosis. 1990, Vol 10, Num 2, pp 85-91, issn 0197-3851, 7 p.Article

Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluidCLAASS, A. H. W; KLEIJER, W. J; VAN DIGGELEN, O. P et al.Prenatal diagnosis. 1986, Vol 6, Num 6, pp 419-427, issn 0197-3851Article

Pre- and postnatal diagnosis of the cerebro-hepato-renal (Zellwefer) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblastsWANDERS, R. J. A; SCHRAKAMP, G; VAN DEN BOSCH, H et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 317-320, issn 0141-8955, suppl. 2Conference Paper

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosisKLEIJER, W. J; JANSE, H. C; VAN DIGGELEN, O. P et al.Prenatal diagnosis. 1985, Vol 5, Num 2, pp 135-143, issn 0197-3851Article

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblastsBOERS, G. H. J; FOWLER, B; SMALS, A. G. H et al.Human genetics. 1985, Vol 69, Num 2, pp 164-169, issn 0340-6717Article

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