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10 Most Recent Publications
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Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
(Article)
Werf, C.S. van der Sribudiani, Y. Verheij, J.B. Carroll, M. O'Loughlin, E. Chen, C.H. Brooks, A.S. Liszewski, M.K. Atkinson, J.P. Hofstra, R.M. |
2013-04-01
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Complex genetics of radial ray deficiencies: Screening of a cohort of 54 patients
(Article)
Vergult, S. Hoogeboom, A.J.M. Esch, J.H.M. van Kuechler, A. Barge-Schaapveld, D.Q.C.M. Sznajer, Y. Mortier, G. Menten, B. Bijlsma, E. Sante, T. Klopocki, E. Wilde, B. de Jongmans, M. Thiel, C. Verheij, J.B. Perez-Aytes, A. |
2013-03-01
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Risk factors and outcome of HIV-associated idiopathic noncirrhotic portal hypertension
(Article)
Schouten, J.N. Ende, M.E. van der Koëter, T. Rossing, H.H.M. Komuta, M. Verheij, J.B. Valk, M. van der Hansen, B.E. Janssen, H.L.A. |
2012-09-17
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Eosinophilic myenteric ganglionitis as a cause of chronic intestinal pseudo-obstruction
(Article)
Ooms, A.H.A.G. Verheij, J.B. Hulst, J.M. Vlot, J. Starre, C. van der Ridder, L. de Krijger, R.R. de |
2012-01-01
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Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip
(Article)
Booij, J.C. Bakker, A. Florijn, R.J. Kulumbetova, J. Moutaoukil, Y. Smeets, B. Verheij, J.B. Kroes, H.Y. Klaver, C.C.W. Schooneveld, M.J. Bergen, A.A.B |
2011-01-01
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The clinical spectrum of complete FBN1 allele deletions
(Article)
Hilhorst-Hofstee, Y. Hamel, B.C. Moll, H.A. Breuning, M.H. Pals, G. Verheij, J.B. Rijlaarsdam, M.E. Mancini, G.M. Cobben, J.M. Giroth, C. Ruivenkamp, C.A. Hansson, K.B. Timmermans, J. |
2010-11-10
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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype
(Article)
Littink, K.W. Pott, J.W.R. Rohrschneider, K. Cremers, F.P.M. Ingeborgh van den Born, L. Hollander, A.I. Collin, R.W.J. Kroes, H.Y. Verheij, J.B. Blokland, E.A.W. Miró, M.C. Hoyng, C. Klaver, C.C.W. Koenekoop, R.K. |
2010-07-01
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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
(Article)
Hout, A.H. van der Oudesluijs, G.G. Venema, A. Verheij, J.B. Mol, B.G.J. Rump, P. Brunner, H, Vos, Y.J. Essen, J.A. van |
2008-06-01
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Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
(Article)
Jongmans, M. Hoefsloot, L.H. Ravenswaaij-Arts, C.M.A. van Donk, K.P. van der Admiraal, R.J. Magee, A. Laar, I.M.B.H. van de Hendriks, Y. Verheij, J.B. Walpole, I. Brunner, H, |
2008-01-01
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Costs, effects, and savings of screening for cystic fibrosis gene carriers
(Article)
Wildhagen, M.F. Hilderink, H.B. Verzijl, J.G. Verheij, J.B. Kooij, L. Tijmstra, T. Kate, L.P. ten Habbema, J.D.F. |
1998-01-01
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