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Affichage: 2 résultats.
    • Article de périodique
    Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)
    • Article de périodique
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    Hannes, F. D.[UCL] Sharp, A. J. Mefford, H. C. de Ravel, Thomy[UCL] Ruivenkamp, C. A. Breuning, M. H. Fryns, J-P[UCL] Devriendt, Koenraad[UCL] Van Buggenhout, Griet[UCL] Vogels, A.[UCL] Stewart, H. Hennekam, R. C.[UCL] Cooper, G. M. Regan, R. Knight, S. J. L. Eichler, E. E. Vermeesch, J. R.[UCL] (2009) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 46, no. 4, p. 223-232 (2009)