P. Maaswinkel-Mooy: search on Z-Library

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1

β-glucuronidase deficiency as a cause of fetal hydrops

M. J. Kagie, W. J. Kleijer, J. G. M. Huijmans, P. Maaswinkel-Mooy, Dr. H. H. H. Kanhai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 283 KB

english, 1992

2

Familial vascular retinopathy

C. W. J. M. Storimans, J. A. Oosterhuis, M. J. Schooneveld, P. J. M. Bos, P. D. Maaswinkel-Mooy

Journal:

Documenta Ophthalmologica

Year:

1990

Language:

english

File:

PDF, 446 KB

english, 1990

3

Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis

B. A. Oost, P. M. Zandvoort, W. Tünte, H. G. Brunner, A. J. M. Hoogeboom, P. D. Maaswinkel-Mooy, J. Bakkeren, B. Hamel, H. H. Ropers

Journal:

Year:

1991

Language:

english

File:

PDF, 431 KB

english, 1991

4

Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs

R. A. C. Roos, P. D. Maaswinkel-Mooy, E. M. Loo, H. H. H. Kanhai

Journal:

European Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 1.82 MB

english, 1987

5

Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family

C. P. Zwetsloot, G. W. Padberg, A. P. Seters, P. D. Maaswinkel-Mooy, W. Onkenhout

Journal:

Journal of Neurology

Year:

1992

Language:

english

File:

PDF, 510 KB

english, 1992

6

Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)

E. A. Landsmeer-Beker, G. G. Massa, P. D. Maaswinkel-Mooy, J. J. P. van de Kamp, S. E. Papapoulos

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 498 KB

english, 1997

7

Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

R.J.A. Wanders, W. Smit, H.S.A. Heymans, R.B.H. Schutgens, P.G. Barth, H. Schierbeek, G.P.A. Smit, R. Berger, H. Przyrembel, T.A. Eggelte, J.M. Tager, P.D. Maaswinkel-Mooy, A.C.B. Peters, L.A.H. Monne

Journal:

Clinica Chimica Acta

Year:

1987

Language:

english

File:

PDF, 870 KB

english, 1987

8

New mutations in two Dutch patients with early infantile galactosialidosis

J Groener, P Maaswinkel-Mooy, V Smit, M.v.d Hoeven, J Bakker, Y Campos, A d’Azzo

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 347 KB

english, 2003

9

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, Bill Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, Petra Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 628 KB

english, 1999

10

GENOMIC IMPRINTING IN HEREDITARY GLOMUS TUMOURS: EVIDENCE FOR NEW GENETIC THEORY

Van Der Mey, AndelG.L., Maaswinkel-Mooy, PetraD., Cornelisse, CeesT., Schmidt, PieterH., Van De Kamp, JacquesJ.P.

Journal:

Year:

1989

Language:

english

File:

PDF, 465 KB

english, 1989

11

48XXXX-syndrome. Case report and review of the literature

Haan, J., Brouwer, O.F., Maaswinkel-Mooy, P.D., Peters, A.C.B.

Journal:

Clinical Neurology and Neurosurgery

Year:

1988

Language:

english

File:

PDF, 111 KB

english, 1988

12

Holoprosencephaly: variation of expression in face and brain in three sibs.

Zwetsloot, C P, Brouwer, O F, Maaswinkel-Mooy, P D

Journal:

Journal of Medical Genetics

Year:

1989

Language:

english

File:

PDF, 633 KB

english, 1989

13

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

Journal:

Archives of Disease in Childhood

Year:

1987

Language:

english

File:

PDF, 264 KB

english, 1987

14

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

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.91 MB

english, 1992

15

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours

van Gils, APG, van der Mey, AGL, Hoogma, RPLM, Sandkuijl, LA, Maaswinkel-Mooy, PD, Falke, THM, Pauwels, EKJ

Journal:

British Journal of Cancer

Year:

1992

Language:

english

File:

PDF, 975 KB

english, 1992

16

151 CLINICAL HETEROGENEITY IN GAUCHER DISEASE TYPE 3

Maaswinkel-Mooy, P D, Poorthuis, B J H M, Van De Kamp, J J P

Journal:

Pediatric Research

Year:

1986

Language:

english

File:

PDF, 1.29 MB

english, 1986

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