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10 Most Recent Publications
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ACTA2 Mutation With Childhood Cardiovascular, Autonomic and Brain Anomalies and Severe Outcome
(Article)
Meuwissen, M.E.C. Leguin, M. Bindels-de Heus, K. Brüggenwirth, H.T. Knapen, M.F.C.M. Dalinghaus, M. Coo, R.F. de Bever, Y. van Winkelman, B.H.J. Mancini, G.M.S. |
2013-04-30
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Application of the new classification on patients with a disorder of sex development in Indonesia
(Article)
Juniarto, A.Z. Zwan, Y.G. van der Faradz, S.M.H. Drop, S.L.S. Santosa, A. Hersmus, R. Jong, F.H. de Olmer, R. Brüggenwirth, H.T. Themmen, A.P.N. Wolffenbuttel, K.P. Looijenga, L.H.J. |
2012-01-13
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
(Article)
Laar, I.M.B.H. van de Linde, D. van der Moelker, A. Graaf, B.M. de Matyas, G. Frohn-Mulder, I.M.E. Timmermans, J. Hilhorst-Hofstee, Y. Cobben, J.M. Brüggenwirth, H.T. Laer, L. van Loeys, B. Oei, E.H.G. Backer, J. de Coucke, P. Dietz, H.C. Willems, P.J. Oostra, B.A. Paepe, A. de Roos-Hesselink, J.W. Bertoli Avella, A.M. Wessels, M.W. Bos, P.K. Bessems, J.H.J.M. Bierma-Zeinstra, S.M.A. Meer, B.L. van Pals, G. Oldenburg, R. Bekkers, J.A. |
2012-01-01
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Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes
(Article)
Nagel, J.H.A. Peeters, J. Klijn, J.G.M. Spek, P.J. van der Foekens, J.A. Martens, J.W.M. Schutte, M. Meijers-Heijboer, H. Smid, M. Sieuwerts, A.M. Wasielewski, M. Weerd, V. de Trapman-Jansen, A.M.A.C. Ouweland, A.M.W. van den Brüggenwirth, H.T. IJcken, W.F.J. van |
2011-05-26
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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
(Article)
Valstar, M.J. Brüggenwirth, H.T. Olmer, R. Wevers, R.A. Verheijen, F.W. Poorthuis, B.J. Halley, D.J.J. Wijburg, F.A. |
2010-12-01
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Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
(Article)
Valstar, M.J. Neijs, S. Brüggenwirth, H.T. Olmer, R. Ruijter, G.J.G. Wevers, R.A. Diggelen, O.P. van Poorthuis, B.J. Halley, D.J.J. Wijburg, F.A. |
2010-12-01
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Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development
(Article)
Elfferich, P. Juniarto, A.Z. Drop, S.L.S. Faradz, S.M.H. Brüggenwirth, H.T. Brinkmann, A.O. Dubbink, H.J. Royen, M.E. van Molier, M. Hoogerbrugge, J.W. Houtsmuller, A.B. Trapman, J. Santosa, A. Jong, F.H. de |
2009-12-01
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A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
(Article)
Hersmus, R. Leeuw, B. de Stoop, J.A. Bernard, P. Doorn, H.C. van Brüggenwirth, H.T. Drop, S.L.S. Oosterhuis, J.W. Harley, V.R. Looijenga, L.H.J. |
2009-06-12
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Chromosome 3 intratumor heterogeneity in uveal melanoma
(Article)
Mensink, H.W. Vaarwater, J. Kilic, E. Naus, N.C. Mooy, N. Luyten, G.P.M. Brüggenwirth, H.T. Paridaens, D. Klein, J.E.M.M. de |
2009-02-01
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: A prospective study of 4000 amniotic fluid samples
(Article)
Opstal, D. van Boter, M. Jong, D. de Berg, C.D.F. van den Brüggenwirth, H.T. Wildschut, H.I.J. Klein, J.E.M.M. de Galjaard, R-J.H. |
2009-01-01
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