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Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic herniaMAASWINKEL-MOOIJ, P. D; STOKVIS-BRANTSMA, W. H.American journal of medical genetics. 1992, Vol 42, Num 5, pp 647-648, issn 0148-7299Article

46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q-syndromeMAASWINKEL-MOOIJ, P. D; DE JONG, P; BEVERSTOCK, G. C et al.Clinical genetics. 1993, Vol 43, Num 2, pp 76-78, issn 0009-9163Article

Unsuccessful dietary treatment of Sjögren-Larsson syndromeMAASWINKEL-MOOIJ, P. D; BROUWER, O. F; RIZZO, W. B et al.The Journal of pediatrics. 1994, Vol 124, Num 5, pp 748-750, issn 0022-3476, 1Article

4-hydroxybutyric aciduria: further clinical heterogeneity in a new caseONKENHOUT, W; MAASWINKEL-MOOIJ, P. D; POORTHUIS, B. J. H. M et al.European journal of pediatrics. 1989, Vol 149, Num 3, pp 194-196, issn 0340-6199Article

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemiaMAASWINKEL-MOOIJ, P. D; VAN DEN BOGERT, C; SCHOLTE, H. R et al.The Journal of pediatrics. 1996, Vol 128, Num 5, pp 679-683, issn 0022-3476, 1Article

Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complexMAASWINKEL-MOOIJ, P. D; PAPAPOULOS, S. E; GERRITSEN, E. J. A et al.European journal of pediatrics. 1989, Vol 149, Num 3, pp 179-183, issn 0340-6199Article

Monozygotic twin brothers with the fragile X syndrome : different CGG repeats and different mental capacitiesHELDERMAN-VAN DEN ENDEN, A. T. J. M; MAASWINKEL-MOOIJ, P. D; HOOGENDOORN, E et al.Journal of medical genetics. 1999, Vol 36, Num 3, pp 253-257, issn 0022-2593Article

Adenylosuccinase deficiency presenting with epilepsy in early infancyMAASWINKEL-MOOIJ, P. D; LAAN, L. A. E. M; ONKENHOUT, W et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 4, pp 606-607, issn 0141-8955Article

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