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7 Most Recent Publications
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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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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
(Article)
Laar, I.M.B.H. van de Oldenburg, R. Vriend, G. Pattynama, P.M.T. Collee, J.M. Majoor-Krakauer, D.F. Poldermans, D. Frohn-Mulder, I.M.E. Micha, D. Timmermans, J. Hilhorst-Hofstee, Y. Bierma-Zeinstra, S.M.A. Pals, G. Willems, P.J. Kros, J.M. Oei, E.H.G. Oostra, B.A. Wessels, M.W. Bertoli Avella, A.M. Roos-Hesselink, J.W. Graaf, B.M. de Verhagen, J.M.A. Hoedemaekers, Y.M. Willemsen, R. Severijnen, L.A. Venselaar, H. |
2011-02-01
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Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study
(Article)
Capelle, C.I. van Beek, N.A.M.E. van der Puga, A.C. Reuser, A.J.J. Ploeg, A.T. van der Hagemans, M.L.C. Arts, W.F.M. Hop, W.C.J. Lee, P. Jaeken, J. Frohn-Mulder, I.M.E. Merkus, P.J.F.M. Corzo, D. |
2010-12-01
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The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
(Article)
Hoedemaekers, Y.M. Caliskan, K. Michels, M. Frohn-Mulder, I.M.E. Smagt, J.J. van der Phefferkorn, J.E. Wessels, M.W. Cate, F.J. ten Sijbrands, E.J.G. Majoor-Krakauer, D.F. |
2010-06-01
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First locus for primary pulmonary vein stenosis maps to chromosome 2q
(Article)
Laar, I.M.B.H. van de Wessels, M.W. Krijger, R.R. de Oostra, B.A. Bertoli Avella, A.M. Frohn-Mulder, I.M.E. Dalinghaus, M. Graaf, B.M. de Tienhoven, M. van Moer, P. van der Husen-Ebbinge, M. Leguin, M. Dooijes, D. |
2009-10-01
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Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities
(Article)
Beek, N.A.M.E. van der Soliman, O.I.I. Capelle, C.I. van Geleijnse, M.L. Vletter, W.B. Kroos, M.A. Reuser, A.J.J. Frohn-Mulder, I.M.E. Doorn, P.A. van Ploeg, A.T. van der |
2008-12-15
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A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
(Article)
Wessels, M.W. Graaf, B.M. Wladimiroff, J.W. Niermeijer, M.F. Heutink, P. Oostra, B.A. Dooijes, D. Bertoli Avella, A.M. Willems, P.J. Cohen-Overbeek, T.E. Spitaels, S.E.C. Groot-de Laat, L.E. Cate, F.J. ten Frohn-Mulder, I.M.E. Krijger, R.R. de Bartelings, M.M. Essed, N. |
2008-01-01
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