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Displaying 14 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
    Rupture de l'artère rénale et du parenchyme rénal chez une patiente enceinte, atteinte du Syndrome de Ehlers-Danlos de type vasculaire.
    Debie, Benoît[UCL] Hammer, Frank[UCL] Dahan, Karin[UCL] Feyaerts, Axel[UCL] Jasienski, Stéphanie[UCL] Opsomer, Reinier-Jacques[UCL] Wese, François-Xavier[UCL] Van Cangh, Paul[UCL] Tombal, Bertrand[UCL] (2005) Progrès en urologie : journal de l'Association française d'urologie et de la Société française d'urologie — Vol. 15, no. 2, p. 303-5 (2005)
    • Journal article
    Du syndrome d'Alport à l'hématurie familiale bénigne: aspects cliniques et génétiques.
    Maziers, Nicolas[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] (2005) Néphrologie & thérapeutique — Vol. 1, no. 2, p. 90-100 (2005)
    • Journal article
    Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Dahan, Karin[UCL] Hermans, Cédric[UCL] (2009) Haemophilia — Vol. 15, no. 3, p. 797-801 (2009)
    • Speech
    Familial Hematuria and Consanguinity: No Care for Female Patients?
    Spinogatti, N. Dahan, Karin[UCL] Hall, M. Bagon, J. Depierreux, M. Vilain, C. Nortier, J. (2009) —
    • 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)
    • Speech
    MicroRNA EXPRESSION PROFILING AND ITS IMPLICATIONS FOR THE DIAGNOSIS AND CLASSIFICATION AND THE PREDICTION OF PATIENT OUTCOME IN COLORECTAL CANCER
    Nyiraneza, Christine[UCL] Detry, Roger[UCL] Kartheuser, Alex[UCL] Sempoux, Christine[UCL] Dahan, Karin[UCL] (2009) 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD) — Edinburgh (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)
    • Journal article
    Leg ulcers: A new symptom of Blau syndrome?
    Dhondt, Veerle Dahan, Karin[UCL] Hofman, Sarah Beele, Hilde (2008) European Journal of Dermatology — Vol. 18, no. 6, p. 635-7 (2008)
    • Journal article
    Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
    Baguette, Christel Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] Louis, Jacques Dahan, Karin[UCL] Vincent, Marie-Françoise[UCL] Cornu, Guy[UCL] (2002) Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology — Vol. 24, no. 1, p. 69-71 (2002)
    • Journal article
    [Rupture of the renal artery and renal parenchyma in a pregnant woman with vascular form of Ehlers-Danlos Syndrome]
    Debie, B. Hammer, Frank[UCL] Dahan, Karin[UCL] Feyaerts, Axel[UCL] Tombal, Bertrand[UCL] Jasienski, S. Opsomer, Reinier-Jacques[UCL] Wese, François-Xavier[UCL] Van Cangh, Paul[UCL] (2005) Progres en Urologie — Vol. 15, no. 2, p. 303-305 (2005)
    • Journal article
    A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
    Dahan, Karin[UCL] Devuyst, Olivier[UCL] Smaers, Michèle[UCL] Vertommen, Didier[UCL] Loute, Guy Poux, Jean-Michel Viron, Béatrice Jacquot, Christian Gagnadoux, Marie-France Chauveau, Dominique Büchler, Mathias Cochat, Pierre Cosyns, Jean-Pierre[UCL] Mougenot, Béatrice Rider, Mark H.[UCL] Antignac, Corinne Dumoulin, Christine[UCL] Pirson, Yves[UCL] (2003) Journal of the American Society of Nephrology — Vol. 14, no. 11, p. 2883-2893 (2003)
    • Journal article
    Multiple neoplasia in a 15-year-old girl with familial adenomatous polyposis.
    Brasseur, Benoit[UCL] Dahan, Karin[UCL] Beauloye, Véronique[UCL] Blétard, Noella[UCL] Chantrain, Christophe[UCL] Dupont, Sophie[UCL] Guarin, Jean-Luc[UCL] Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] (2009) Journal of Pediatric Hematology / Oncology — Vol. 31, no. 7, p. 530-532 (2009)
    • Speech
    Impact of the polymorphic variant 5 FR/G-260C in the Multidrug Resistance-associate Protein-1 gene on severity of cystic fibrosis
    Mafficini, A. Ortombina, M. Sermet-Gaudelus, I. Lebecque, Patrick[UCL] Leal, Teresinha[UCL] Leonard, Anissa Reychler, Gregory[UCL] Dahan, Karin[UCL] Pepermans, Xavier Lenoir, G. Sorio, C. Iansa, P. Assael, B.M. Melotti, P. (2009) 32nd European Cystic Fibrosis Conference — (France) Brest