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Displaying 4 results.
    • Speech
    Low frequency of the GJB6 342 Kb deletion in the belgian deaf population.
    Hilbert, P Wuyts, W. Del Castillo, I Mariage, L Peeters, N Ligny, S Courtmans, I Fourneau, AF Moreno, F Van Camp, G. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
    • Journal article
    Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients
    Vits, L. Beckers, D. Craen, M. de Beaufort, C. Vanfleteren, E. Dahan, Karin[UCL] Nollet, A. Vanhaverbeke, G. Imschoot, S. V. Bourguignon, J-P Beauloye, Véronique[UCL] Storm, K. Massa, G. Giri, M. Nobels, F. De Schepper, Jean-Pierre[UCL] Rooman, R. Van den Bruel, A. Mathieu, Chantal[UCL] Wuyts, W. (2006) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 70, no. 4, p. 355-9 (2006)
    • Speech
    Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
    Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel[UCL] Van Hul, W. Van Maldergem, L. (2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
    • Journal article
    Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
    Wuyts, W. Reyniers, E Ceuterick, C. Storm, K. de Barsy, Thierry[UCL] Martin, JJ. (2005) American Journal of Medical Genetics. Part A — Vol. 133A, no. 1, p. 82-4 (2005)