Search Results - Coucke, P.J.

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  1. 1
    Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

    Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome by 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

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  2. 2
    Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome

    Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome by Ali, R.H., Shah, K., Nasir, A., Steyaert, W., Coucke, P.J., Ahmad, W.

    Published in Clinical genetics
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  3. 3
    Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome: A biallelic deletion variant in DCAF17 , causing familial WSS

    Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome: A biallelic deletion variant in DCAF17 , causing familial WSS by Ali, R.H., Shah, K., Nasir, A., Steyaert, W., Coucke, P.J., Ahmad, W.

    Published in Clinical genetics
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  4. 4
    Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population

    Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population by 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
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  5. 5
    Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

    Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 by Coucke, P J, Wessels, M W, Van Acker, P, Gardella, R, Barlati, S, Willems, P J, Colombi, M, De Paepe, A

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  6. 6
    Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

    Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions by 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.

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  7. 7
    Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia

    Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia by Nakane, T., Tando, T., Aoyagi, K., Hatakeyama, K., Nishimura, G., Coucke, I.P.J., Mortier, G., Sugita, K.

    Published in Molecular syndromology
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  8. 8
    Fibulin_5 mutations in recessive cutis laxa

    Fibulin_5 mutations in recessive cutis laxa by Hu, Q., Coucke, P.J., Sommer, P., Davis, E.C., Reinhardt, D.P., Mecham, R.P., Urban, Z.

    Published in Matrix biology
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  9. 9
    BclI RFLP in fucosidase pseudogene (FUCA1P)

    BclI RFLP in fucosidase pseudogene (FUCA1P) by Willems, P J, Carritt, B, Coucke, P, Darby, J K, Van der Auwera, B J, O'Brien, J S

    Published in Nucleic acids research
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  10. 10
    BcII RFLP in fucosidase pseudogene (FUCA1P)

    BcII RFLP in fucosidase pseudogene (FUCA1P) by Willems, P.J., Carritt, B., Coucke, P., Darby, J.K., Van der Auwera, B.J., O'Brien, J.S.

    Published in Nucleic acids research
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