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Displaying 1 - 25 of 92 results.

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    • Journal article
    46 XX-Females affected by WT1 splice site mutations in intron 9 (Frasier site) have a conserved reproductive function
    Godefroid, Nathalie[UCL] Goffin, Eric[UCL] Aydin, Selda[UCL] Dahan, Karin[UCL] (2015) J Med Genet — Vol. N/D, no.N/D, p. N/D (N/D)
    • 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
    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
    Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy
    Labriola, Laura[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] (2007) Nephrology, Dialysis, Transplantation — Vol. 22, no. 10, p. 3070-3073 (2007)
    • 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)
    • Journal article
    Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome
    Riveira-Munoz, Eva[UCL] Devuyst, Olivier[UCL] Belge, Hendrica[UCL] Jeck, Nikola Strompf, Laurence Vargas-Poussou, Rosa Jeunemaître, Xavier Blanchard, Anne Knoers, Nine V. Konrad, Martin[UCL] Dahan, Karin[UCL] (2008) Nephrology, Dialysis, Transplantation — Vol. 23, no. 10, p. 3120-3125 (2008)
    • Journal article
    Molecular analysis of GB virus C isolates in Belgian hemodialysis patients.
    Liu, H F Goubau, Patrick[UCL] Cornu, C. Jadoul, Michel[UCL] Dahan, Karin[UCL] Loute, G. (1998) Journal of medical virology — Vol. 55, no. 2, p. 118-22 (1998)
    • Journal article
    Mutations in SACS cause atypical and late-onset forms of ARSACS
    Baets, J. Van den Bergh, Peter[UCL] Deconinck, T. Smets, K. Goossens, D. Dahan, Karin[UCL] Schmedding, E. Santens, P. Rasic, V. Milic Van Damme, Patricia[UCL] Robberecht, Wim[UCL] De Meirleir, L. Michielsens, B. Del-Favero, J. Jordanova, A. De Jonghe, P. (2010) Neurology — Vol. 75, no. 13, p. 1181-8 (2010)
    • Journal article
    Polymicrogyria in chromosome 22q11 deletion syndrome.
    Ghariani, Sophie[UCL] Dahan, Karin[UCL] Saint-Martin, Christine[UCL] Kadhim, Hazim[UCL] Morsomme, Françoise[UCL] Moniotte, Stéphane[UCL] Dumoulin, Christine[UCL] Sébire, Guillaume[UCL] (2002) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society — Vol. 6, no. 1, p. 73-77 (2002)
    • Journal article
    Late-onset renal failure in Senior-Loken syndrome.
    Georges, B. Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Snyers, Bernadette[UCL] Carlier, B. Loute, G. Pirson, Yves[UCL] (2000) American journal of kidney diseases : the official journal of the National Kidney Foundation — Vol. 36, no. 6, p. 1271-5 (2000)
    • Journal article
    Autosomal-dominant chronic interstitial nephritis with early hyperuricemia.
    Pirson, Yves[UCL] Loute, G. Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Dumoulin, Christine[UCL] (2000) Advances in nephrology from the Necker Hospital — Vol. 30, p. 357-369 (2000)
    • Journal article
    A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
    Strautnieks, S S Bull, L N Knisely, A S Kocoshis, S A Dahl, N Arnell, H Sokal, Etienne[UCL] Dahan, Karin[UCL] Childs, S Ling, V Tanner, M S Kagalwalla, A F Németh, A Pawlowska, J Baker, A. Mieli-Vergani, G Freimer, N B Gardiner, R M Thompson, R J (1998) Nature genetics — Vol. 20, no. 3, p. 233-8 (1998)
    • Journal article
    High prevalence of GB virus C/hepatitis G virus in Kinshasa, Democratic Republic of Congo: a phylogenetic analysis.
    Liu, H F Goubau, Patrick[UCL] Muyembe-Tamfum, J J Dahan, Karin[UCL] Desmyter, J. (2000) Journal of medical virology — Vol. 60, no. 2, p. 159-65 (2000)
    • Dissertation
    Familial juvenile hyperuricemic nephropathy (FJHN) : clinical phenotype, gene cloning and UMOD gene mutation identification
    Dahan, Karin[UCL] (2004)
    • Journal article
    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults
    Hureaux, Marguerite Ashton, Emma Dahan, Karin[UCL] Houillier, Pascal Blanchard, Anne Cormier, Catherine Koumakis, Eugenie Iancu, Daniela Belge, Hendrica Hilbert, Pascale Rotthier, Annelies Del Favero, Jurgen Schaefer, Franz Kleta, Robert Bockenhauer, Detlef Jeunemaitre, Xavier Devuyst, Olivier[UCL] Walsh, Stephen B. Vargas-Poussou, Rosa (2019) Kidney International — Vol. 96, no. 6, p. 1408-1416 (2019)
    • Journal article
    Mutation in the Gene: A New Family with Familial Renal Hypouricemia Type 2.
    Maalouly, Christian[UCL] Dahan, Karin[UCL] Devresse, Arnaud[UCL] Gillion, Valentine[UCL] (2021) Case reports in nephrology — Vol. 2021, p. 4751099 (2021)
    • Journal article
    Another Case of Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy without Other Symptomatic Organ Involvement.
    Gillion, Valentine[UCL] Devresse, Arnaud[UCL] Demoulin, Nathalie[UCL] Dahan, Karin[UCL] (2021) Kidney international reports — Vol. 6, no. 10, p. 2732-2733 (2021)
    • 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)
    • Speech
    Difficult genetic counseling in a family with pathogenic BRCA2 mutation.
    Ingargiola, II Dahan, Karin[UCL] Smaers, M Van Cangh, Paul[UCL] Dumoulin, Christine[UCL] (2001) —
    • Journal article
    Evolution of communication abilities after cochlear implantation in prelingually deaf children
    Gérard, Jean-Marc[UCL] Deggouj, Naima Hupin, Cloé[UCL] Buisson, Anne-Laure[UCL] Monteyne, Veronique[UCL] Lavis, C.[UCL] Dahan, Karin[UCL] Gersdorff, Michel (2010) International Journal of Pediatric Otorhinolaryngology — Vol. 74, no. 6, p. 642-648 (2010)
    • Journal article
    The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
    Sempoux, Christine[UCL] Guiot, Yves[UCL] Dahan, Karin[UCL] Moulin, Pierre[UCL] Stevens, Martine[UCL] Lambot, Virginie[UCL] de Lonlay, Pascale Fournet, Jean-Christophe Junien, Claudine Jaubert, Francis Nihoul-Fekete, Claire Saudubray, Jean-Marie Rahier, Jacques[UCL] (2003) Diabetes — Vol. 52, no. 3, p. 784-794 (2003)
    • Journal article
    Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?
    Dahan, Karin[UCL] Fuchshuber, A Adamis, S.[UCL] Smaers, M[UCL] Kroiss, S Loute, G. Cosyns, Jean-Pierre[UCL] Hildebrandt, F Dumoulin, Christine[UCL] Pirson, Yves[UCL] (2001) Journal of the American Society of Nephrology : JASN — Vol. 12, no. 11, p. 2348-57 (2001)
    • 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
    Description morphologique et approche génétique d'un nouveau reduviidae (Harpactorinae) : Zelus Josephpaulusi, N.SP.
    Jadin, Jean-Marie Dahan, Karin Jadin-Nyssens, Madeleine Houbion, Yves Le Corre, Frédéric Dumoulin, Christine[UCL] (2002) Lambillionea — Vol. 102, no.3, p. 303-328 (2002)
    • 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)

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