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scopus: 6603165790

Smagt, J.J. van der

(Jasper van der Smagt)


hirschsprung disease disease syndrome hirschsprung patient mutation ednrb genet ser 305asn substitution family goldberg-shprintzen syndrome variant centile goldberg-shprintzen retardation microcephaly ednrb variant phenotype article university month 305asn erasmus university department substitution abnormality feature child university hospital birth weight osinga hofstra netherland genetic receptor endothelin syndromic hscr patients patient v 3 rd centile bridge attie t breuning ednrb gene jmg.bmj.com hospital waardenburg-hirschsprung disease nager acrofacial dysostosis brook endothelin receptor b muscle weakness november downloaded 5 years martijn h breuning rotterdam corine e catsman brain analysis inheritance erasmu meijer birth moroccan goldberg-shprintzen phenotype cell biology note hypertelorism scoliosi moroccan family goldberg-shprintzen gene dysmorphic features shah-waardenburg syndrome germline mutations bardet-biedl syndrome shprintzen 19 eyelashes carel meijers attie segment hscr 2 weeks osinga j




7 Most Recent Publications

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus (Article)
Harakalova, M. Smagt, J.J. van der Wessels, M.W. Baars, H.F. Weiss, M.M. Pals, G. Golmard, L. Jeunemaitre, X. Lindhout, D. Cuppen, E. Baas, A.F. Kovel, C.G.F. de Slot, R.V. Poot, M. Nijman, I.J. Medic, J. Joziasse, I.C. Deckers, J.W. Roos-Hesselink, J.W.
2013-05-01
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: Pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study (Article)
Cox, M.G.P.J. Zwaag, P.A. van der Wijngaard, A. van den Houweling, A.C. Jongbloed, J.D.H. Jordaens, L.J.L.M. Cramer, M.J. Doevendans, P.A. Bakker, J.M.T. de Wilde, A.A.M. Tintelen, J.P. van Hauer, R.N.W. Werf, C. van der Atsma, D.E. Smagt, J.J. van der Noorman, M. Bhuiyan, Z.A. Wiesfeld, A.C. Volders, P.G.A. Langen, I.M. van Dooijes, D.
2011-06-14
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: Determining the best cardiological screening strategy (Article)
Christiaans, I. Birnie, E. Arens, Y.H.J.M. DenWijngaard, A. van Atsma, D.E. Helderman-van den Enden, A.T.J.M. Houweling, A.C. Boer, K. de Smagt, J.J. van der Hauer, R.N.W. Marcelis, C. Timmermans, J. Bonsel, G.J. Langen, I.M. van Wilde, A.A.M. Mannens, M.M.A.M. Michels, M. Majoor-Krakauer, D.F. Dooijes, D. Tintelen, J.P. van Berg, M.P. van den Volders, P.G.A.
2011-05-01
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
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic Task Force Criteria impact of new Task Force Criteria (Article)
Cox, M.G.P.J. Smagt, J.J. van der Jordaens, L.J.L.M. Arens, Y.H.J.M. Cramer, M.J. Doevendans, P.A. Tintelen, J.P. van Wilde, A.A.M. Hauer, R.N.W. Noorman, M. Wiesfeld, A.C. Volders, P.G.A. Langen, I.M. van Atsma, D.E. Dooijes, D. Houweling, A.C. Loh, P.
2010-04-01
A duplication including GATA4 does not co-segregate with congenital heart defects (Article)
Joziasse, I.C. Smagt, J.J. van der Poot, M. Hochstenbach, R. Nelen, M.R. Gijn, M. van Dooijes, D. Mulder, B.J.M. Doevendans, P.A.
2009-05-01
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) (Article)
Brooks, A.S. Breuning, M.H. Osinga, J. Smagt, J.J. van der Catsman-Berrevoets, C.E. Buys, C.H.C.M. Meijers, C. Hofstra, R.M.
1999-01-01