Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, K, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M
Published in Human mutation (2008)
Published in Human mutation (2008)
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Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish
Van Gils, M., Willaert, A., De Vilder, E.Y.G., Coucke, P.J., Vanakker, O.M.
Published in Journal of investigative dermatology (01.11.2018)
Published in Journal of investigative dermatology (01.11.2018)
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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome
Loeys, B L, Gerber, E E, Riegert-Johnson, D, Iqbal, S, Whiteman, P, McConnell, V, Chillakuri, C R, Macaya, D, Coucke, P J, De Paepe, A, Judge, D P, Wigley, F, Davis, E C, Mardon, H J, Handford, P, Keene, D R, Sakai, L Y, Dietz, H C
Published in Science translational medicine (17.03.2010)
Published in Science translational medicine (17.03.2010)
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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome: A biallelic deletion variant in DCAF17 , causing familial WSS
Ali, R.H., Shah, K., Nasir, A., Steyaert, W., Coucke, P.J., Ahmad, W.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
Ali, R.H., Shah, K., Nasir, A., Steyaert, W., Coucke, P.J., Ahmad, W.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population
Farraj, Mohammad A., Coucke, P. J., Claes, Kathleen, De Paepe, Anne, De Pauw, K., Steyaert, W., De Leeneer, K., Essawi, O., Essawi, Tamer
Published in Disease markers (01.01.2015)
Published in Disease markers (01.01.2015)
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Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
Callewaert, B.L., Loeys, B.L., Casteleyn, C., Willaert, A., Dewint, P., De Backer, J., Sedlmeier, R., Simoens, P., De Paepe, A.M., Coucke, P.J.
Published in Genesis (New York, N.Y. : 2000) (01.08.2008)
Published in Genesis (New York, N.Y. : 2000) (01.08.2008)
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Fibulin_5 mutations in recessive cutis laxa
Hu, Q., Coucke, P.J., Sommer, P., Davis, E.C., Reinhardt, D.P., Mecham, R.P., Urban, Z.
Published in Matrix biology (01.11.2006)
Published in Matrix biology (01.11.2006)
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Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia
Nakane, T., Tando, T., Aoyagi, K., Hatakeyama, K., Nishimura, G., Coucke, I.P.J., Mortier, G., Sugita, K.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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