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Browsing by Author Bertoli-Avella, A.M.

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Showing results 1 to 7 of 7
Full TextIssue DateTitleAuthor(s)
2011Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisLaar, I.M. van de; Oldenburg, R.A.; Pals, G.; Roos-Hesselink, J.W.; Graaf, B.M. de, et al
2011Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsPoulton, C.J.; Schot, R.; Kia, S.K.; Jones, M.; Verheijen, F.W., et al
2010Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.Valstar, M.J.; Bertoli-Avella, A.M.; Wessels, M.W.; Ruijter, G.J.; Graaf, B. de, 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
2008A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.Wessels, M.W.; Graaf, B.M. de; Cohen-Overbeek, T.E.; Spitaels, S.E.; Laat, L.E. de Groot-de, et al
2007A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.Liu, F.; Arias Vasquez, A.; Sleegers, K.; Aulchenko, Y.S.; Kayser, M., et al
2007Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function.Arias Vasquez, A.; Lau, L. de; Pardo, L.; Liu, F.; Feng, B.J., et al
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