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Browsing by Author Coucke, P.J.

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Full TextIssue DateTitleAuthor(s)
2011Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype.Swinnen, F.K.R.; Coucke, P.J.; Paepe, A.M. De; Symoens, S.; Malfait, F., et al
2010Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Hoornaert, K.P.; Vereecke, I.; Dewinter, C.; Rosenberg, T.; Beemer, F.A., et al
2009Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.Callewaert, B.L.; Loeys, B.L.; Ficcadenti, A.; Vermeer, S.; Landgren, M., et al
2009Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.Swinnen, F.K.; Leenheer, E. de; Coucke, P.J.; Cremers, C.W.R.J.; Dhooge, I.J.
2005Defective protein glycosylation in patients with cutis laxa syndrome.Morava, E.; Wopereis, S.; Coucke, P.J.; Gillessen-Kaesbach, G.; Voit, T., et al
2005A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.Wopereis, S.; Morava, E.; Grunewald, S.; Mills, P.B.; Winchester, B.G., et al
2004Three new families with arterial tortuosity syndrome.Wessels, M.W.; Catsman-Berrevoets, C.E.; Mancini, G.M.; Breuning, M.H.; Hoogeboom, J.J., et al
1997Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1pCamp, G. van; Coucke, P.J.; Kunst, H.P.M.; Schatteman, I.; Velzen, D. van, et al
1997Inherited nonsyndromic hearing loss: an audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2Marres, H.A.M.; Ewijk, M. van; Huygen, P.L.M.; Kunst, H.P.M.; Camp, G. van, et al
1996Non-syndromic autosomal dominant progressive sensorineural hearing loss. Audiological analysis on a pedigree linked to DFNA2.Kunst, H.P.M.; Marres, H.A.M.; Huygen, P.L.M.; Coucke, P.J.; Willems, P., et al
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