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scopus: 6603907278

Macville, M.V.E.

(Merryn Macville)


hydrocephalu karyotyping abnormality patient study analysis strategy chromosomal sample syndrome netherland pregnancy result diagnosis women chromosomal abnormality chromosomal abnormalities difference department probe amniocentesi health table genetic university center accuracy quality mlpa strategy l 1 syndrome detection fl uid feature defect fication mutation screening chromosome test results cause group centre brain x-linked aneuploidy resource use cost difference genet karyotyping strategy disorder syndromic hydrocephalus testing l 1cam gene / european journal multiplex syndromic maastricht university outcome child laboratory technique number indication classi fication ligation-dependent cilia cost differences fl uid cells maastricht survey gynecol decision resource atrophy obstet bmc pregnancy sh patients target non-syndromic failure rate




3 Most Recent Publications

Congenital hydrocephalus in clinical practice: A genetic diagnostic approach (Article)
Verhagen, J.M.A. Schrander-Stumpel, C.T.R.M. Bakker, J. Engelen, J.J.M. Vos, Y.J. Frints, S.G.M. Krapels, I.P.C. Die-Smulders, C. de Lint, F.H.M. van Willekes, C. Weber, J.W. Gavilanes, A.W.D. Macville, M.V.E. Stegmann, A.P.A.
2011-11-01
Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis (Article)
Boormans, E.M.A. Birnie, E. Hoffer, M.J.V. Macville, M.V.E. Galjaard, R-J.H. Schuring-Blom, G.H. Zelderen-Bhola, S.L. van Huijsdens, K. Smit, A.B. Lith, J.M.M. van
2011-05-19
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study (Article)
Boormans, E.M.A. Birnie, E. Hoffer, M.V.J. Go, A. Wildschut, H.I.J. Schuring-Blom, G.H. Oepkes, D. Oppen, C.A.C. van Nijhuis, J.G. Macville, M.V.E. Kooper, A.J.A. Huijsdens, K.
2008-05-20