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Browsing by Author Verheij, J.B.

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Full TextIssue DateTitleAuthor(s)
2010A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.Littink, K.W.; Pott, J.W.; Collin, R.W.J.; Kroes, H.Y.; Verheij, J.B., et al
2009An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.Verheij, J.B.; Munnik, S.A. de; Dijkhuizen, T.; Leeuw, N. de; Olde Weghuis, D.E.M., et al
2008Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.Jongmans, M.C.J.; Hoefsloot, L.H.; Donk, K.P. van der; Admiraal, R.J.; Magee, A., et al
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