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Displaying 4 results.
    • 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)
    • Journal article
    Blau syndrome associated with a CARD15/NOD2 mutation.
    Snyers, Bernadette[UCL] Dahan, Karin[UCL] (2006) American journal of ophthalmology — Vol. 142, no. 6, p. 1089-92 (2006)
    • Speech
    A new class of mutations involved in Gitelman's syndrome affects the intrinsic activity of the Na-Cl cotransporter NCCT
    Riveira-Munoz, Eva[UCL] Dahan, Karin[UCL] Godefroid, Nathalie[UCL] Devuyst, Olivier[UCL] Chang, Qing Hoenderop, Joost G. Bindels, Rene (2006) 43rd ERA-EDTA Congress — Glasgow (Scotland)
    • Journal article
    A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
    Godefroid, Nathalie Riveira-Munoz, Eva[UCL] Saint-Martin, Christine Nassogne, Marie-Cécile[UCL] Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2006) American journal of kidney diseases : the official journal of the National Kidney Foundation — Vol. 48, no. 5, p. e73-9 (2006)