Hepatocellular carcinoma in glycogen storage disease type IV
de Moor, R A, Schweizer, J J, van Hoek, B, Wasser, M, Vink, R, Maaswinkel-Mooy, P D
Published in Archives of disease in childhood (01.06.2000)
Published in Archives of disease in childhood (01.06.2000)
Get full text
Journal Article
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Petrij, Fred, Dauwerse, Hans G, Blough, Ruthann I, Giles, Rachel H, van der Smagt, Jasper J, Wallerstein, Robert, Maaswinkel-Mooy, Petra D, van Karnebeek, Clara D, van Ommen, Gert-Jan B, van Haeringen, Arie, Rubinstein, Jack H, Saal, Howard M, Hennekam, Raoul C M, Peters, Dorien J M, Breuning, Martijn H
Published in Journal of medical genetics (01.03.2000)
Published in Journal of medical genetics (01.03.2000)
Get full text
Journal Article
Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)
LANDSMEER-BEKER, E. A, MASSA, G. G, MAASWINKEL-MOOY, P. D, VAN DE KAMP, J. J. P, PAPAPOULOS, S. E
Published in European journal of pediatrics (01.10.1997)
Published in European journal of pediatrics (01.10.1997)
Get full text
Journal Article
MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours
VAN GILS, A. P. G, VAN DER MEY, A. G. L, HOOGMA, R. P. L. M, SANDKUIJL, L. A, MAASWINKEL-MOOY, P. D, FALKE, T. H. M, PAUWELS, E. K. J
Published in British journal of cancer (01.06.1992)
Published in British journal of cancer (01.06.1992)
Get full text
Journal Article
New mutations in two Dutch patients with early infantile galactosialidosis
Groener, J, Maaswinkel-Mooy, P, Smit, V, Hoeven, M.v.d, Bakker, J, Campos, Y, d’Azzo, A
Published in Molecular genetics and metabolism (01.03.2003)
Published in Molecular genetics and metabolism (01.03.2003)
Get full text
Journal Article
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory
van der Mey, A G, Maaswinkel-Mooy, P D, Cornelisse, C J, Schmidt, P H, van de Kamp, J J
Published in The Lancet (British edition) (02.12.1989)
Get more information
Published in The Lancet (British edition) (02.12.1989)
Journal Article
Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family
Zwetsloot, C P, Padberg, G W, van Seters, A P, Maaswinkel-Mooy, P D, Onkenhout, W
Published in Journal of neurology (01.02.1992)
Published in Journal of neurology (01.02.1992)
Get more information
Journal Article
Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis
van Oost, B A, van Zandvoort, P M, Tünte, W, Brunner, H G, Hoogeboom, A J, Maaswinkel-Mooy, P D, Bakkeren, J, Hamel, B, Ropers, H H
Published in Human genetics (01.02.1991)
Published in Human genetics (01.02.1991)
Get more information
Journal Article
Holoprosencephaly: variation of expression in face and brain in three sibs
Zwetsloot, C P, Brouwer, O F, Maaswinkel-Mooy, P D
Published in Journal of medical genetics (01.04.1989)
Published in Journal of medical genetics (01.04.1989)
Get full text
Journal Article
beta-Glucuronidase deficiency as a cause of fetal hydrops
Kagie, M J, Kleijer, W J, Huijmans, J G, Maaswinkel-Mooy, P, Kanhai, H H
Published in American journal of medical genetics (01.03.1992)
Published in American journal of medical genetics (01.03.1992)
Get more information
Journal Article
Familial vascular retinopathy. A preliminary report
Storimans, C W, Oosterhuis, J A, van Schooneveld, M J, Bos, P J, Maaswinkel-Mooy, P D
Published in Documenta ophthalmologica (01.10.1990)
Published in Documenta ophthalmologica (01.10.1990)
Get more information
Journal Article
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV
Maaswinkel-Mooy, P D, Poorthuis, B J, van Gelderen, H H, van de Kamp, J J
Published in Archives of disease in childhood (01.10.1987)
Published in Archives of disease in childhood (01.10.1987)
Get full text
Journal Article
Oculoauriculovertebral spectrum and cerebral anomalies
Schrander-Stumpel, C T, de Die-Smulders, C E, Hennekam, R C, Fryns, J P, Bouckaert, P X, Brouwer, O F, da Costa, J J, Lommen, E J, Maaswinkel-Mooy, P D
Published in Journal of medical genetics (01.05.1992)
Published in Journal of medical genetics (01.05.1992)
Get full text
Journal Article
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome
Wanders, R.J.A., Smit, W., Heymans, H.S.A., Schutgens, R.B.H., Barth, P.G., Schierbeek, H., Smit, G.P.A., Berger, R., Przyrembel, H., Eggelte, T.A., Tager, J.M., Maaswinkel-Mooy, P.D., Peters, A.C.B., Monnens, L.A.H., Bakkeren, J.A.J.M., Trijbels, J.M.F., Lommen, E.J.P., Beganovic, N.
Published in Clinica chimica acta (30.06.1987)
Published in Clinica chimica acta (30.06.1987)
Get full text
Journal Article
Werdnig-Hoffmann disease in a Nigerian infant
Pelleboer, R A, Maaswinkel-Mooy, P D, Gelderen, H H
Published in Tropical and geographical medicine (01.07.1989)
Get more information
Published in Tropical and geographical medicine (01.07.1989)
Journal Article
Molecular analysis of SALLI mutations in Townes-Brocks syndrome
KOHLHASE, J, TASCHNER, P. E. M, SEIDEL, J, KIRKPATRICK, S. J, PAULI, R. M, WARGOWSKI, D. S, DEVRIENDT, K, PROESMANS, W, GABRIELLI, O, COPPA, G. V, SWAAY, E. W.-V, TREMBATH, R. C, BURFEIND, P, SCHINZEL, A. A, REARDON, W, SEEMANOVA, E, ENGEL, W, PASCHE, B, NEWMAN, B, BLANCK, C, BREUNING, M. H, TEN KATE, L. P, MAASWINKEL-MOOY, P, MITULLA, B
Published in American journal of human genetics (1999)
Get full text
Published in American journal of human genetics (1999)
Journal Article