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mutation valve patient family aortic genet anomaly holoprosencephaly heart defect development genetic stenosi analysis j med genet deletion bicuspid aortic valve family members study cushion abnormality inheritance syndrome regurgitation pedigree tract septal member semilobar autosomal fetus holoprosencephaly adc paulussen picture aortic valve stenosis valve anomalies figure cause valvular department notch alobar semilobar hpe nonsyndromic atresia valvular aortic stenosis semilunar region table flow tract obstruction endocardial atrial septal defect tricuspid cleft alobar hpe 2003. cardiol dubourg c disease 2004. bicuspid brain 2007. right-sided valve anomalies patient ii factor european journal formation index heart disease right-sided roessler hpe genes wessel /figure phenotype feature aneurysm hypoplastic morphogenesi 2000.
2 Most Recent Publications
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
(Article)
Paulussen, A.D.C. Schrander-Stumpel, C.T.R.M. Bever, Y. van Stolte-Dijkstra, I. Kerstjense-Frederikse, W.S. Herkert, J.C. Essen, J.A. van Lichtenbelt, K.D. Haeringen, A. van Kwee, M.L. Lachmeijer, A.M.A. Tan-Sindhunata, G.M.B. Tserpelis, D.C.J. Maarle, M.C. Arens, Y.H.J.M. Smeets, E.E.J.G.L. Die-Smulders, C. de Engelen, J.J.M. Smeets, H. Herbergs, J. Spee, M.K.M. Stegmann, A.P.A. Mancini, G.M. Brooks, A.S. Colée, M. Maat-Kievit, A.A. Simon, M.E.H. |
2010-09-01
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Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left-ventricular outflow tract obstruction
(Article)
Wessels, M.W. Laar, I.M.B.H. van de Willems, P.J. Roos-Hesselink, J.W. Strikwerda, S. Majoor-Krakauer, D.F. Vries, B.B.A. de Kerstjense-Frederikse, W.S. Vos, Y.J. Graaf, B.M. de Bertoli Avella, A.M. |
2009-02-01
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