• Published

  A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

  Easton, J. A., Albuloushi, A. K., Kamps, M. A. F., Brouns, G. H. M. R., Broers, J. L. V., Coull, B. J., Oji, V., van Geel, M., van Steensel, M. A. M. & Martin, P. E., 1/10/2019, In : Experimental Dermatology. 28, 10, p. 1106-1113 8 p.

  Research output: Contribution to journal › Journal article

• Published

  Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

  de Vos, I. J. H. M., Wong, A. S. W., Welting, T. J. M., Coull, B. J. & van Steensel, M. A. M., 1/08/2019, In : American Journal of Medical Genetics, Part A. 179, 8, p. 1652-1664 13 p.

  Research output: Contribution to journal › Journal article

• Published

  Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

  De Vos, I. J. H. M., Tao, E. Y., Ong, S. L. M., Goggi, J. L., Scerri, T., Wilson, G. R., Low, C. G. M., Wong, A. S. W., Grussu, D., Stegmann, A. P. A., Van Geel, M., Janssen, R., Amor, D. J., Bahlo, M., Dunn, N. R., Carney, T. J., Lockhart, P. J., Coull, B. J. & Van Steensel, M. A. M., 15/08/2018, In : Human Molecular Genetics. 27, 16, p. 2775-2788 14 p.

  Research output: Contribution to journal › Journal article

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