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Browsing by Author Kerstjens-Frederikse, W.S.

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Full TextIssue DateTitleAuthor(s)
2010Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?Jongmans, M.C.J.; Pfundt, R.P.; Hehir-Kwa, J.Y.; Brunner, H.G.; Kerstjens-Frederikse, W.S.
2010The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1, Including a Recessive Family.Hilhorst-Hofstee, Y.; Rijlaarsdam, M.E.; Scholte, A.J.H.A.; Swart-van den Berg, M.; Versteegh, M.I., et al
2009Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.Wessels, M.W.; Laar, I.M. van de; Roos-Hesselink, J.W.; Strikwerda, S.; Majoor-Krakauer, D.F., et al
2005Malpuech syndrome: three patients and a review.Kerstjens-Frederikse, W.S.; Brunner, H.G.; Dael, C.M. van; Essen, A.J. van
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