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patient hydrocephalu deletion syndrome 11.2 mutation analysis family genet feature abnormality lcr 22-c genetic defect gosr 2 tbx 1 gene table examination cause region fication department identi disorder tbx 1 myoclonu l 1 syndrome malformations netherland family members identi fied chromosome heart protein x-linked university brain delay figure anomaly study syndromic hydrocephalus palpebral fi ssures journal l 1cam gene / european journal phenotype american journal lcr 22-b rauch syndromic history maastricht university p.gly ataxia seizure heart malformations classi fication verhagen microarray analysis 144trp cilia sequence .430g tract survey atrophy group member sh patients scoliosi strain non-syndromic family history haploinsuf ficiency non-syndromic hydrocephalus tube defects action myoclonus recurrence disease
4 Most Recent Publications
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1
(Article)
Verhagen, J.M.A. Diderich, K. Srebniak, M. Opstal, D. van Hulsman, L.O. Zutven, L.J.C.M. van Wessels, M.W. Oudesluijs, G.G. Mancini, G.M.S. Eggink, A.J. Verkleij-Hagoort , A.C. Groenenberg, I.A.L. Willems, P.J. Du Plessis, F. Man, S.A. de |
2012-10-01
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Congenital hydrocephalus in clinical practice: A genetic diagnostic approach
(Article)
Verhagen, J.M.A. Schrander-Stumpel, C.T.R.M. Bakker, J. Engelen, J.J.M. Vos, Y.J. Frints, S.G.M. Krapels, I.P.C. Die-Smulders, C. de Lint, F.H.M. van Willekes, C. Weber, J.W. Gavilanes, A.W.D. Macville, M.V.E. Stegmann, A.P.A. |
2011-11-01
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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
(Article)
Corbett, M.A. Schwake, M. Gardner, A.E. Vlaar, A.M. Korenke, G.C. Bloem, B. Coo, I.F.M. de Verhagen, J.M.A. Lehesjoki, A.-E. Gecz, J. Berkovic, S.F. Bahlo, M. Dibbens, L.M. Lin, M. Gandolfo, L.C. Vears, D.F. O'Sullivan, J.D. Robertson, T. Bayly, M.A. |
2011-05-13
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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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