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Displaying 1 - 25 of 70 results.

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    • Journal article
    Le syndrome de Prader-Willi
    Beauloye, Véronique[UCL] Jodogne, Nathalie[UCL] Dassy, Martine[UCL] Bonnier, Christine[UCL] Castelein, Sara[UCL] François, Geneviève[UCL] Godding, Véronique[UCL] Renders, Anne[UCL] Symann, Sophie[UCL] Yüksel, Demet[UCL] Revencu, Nicole[UCL] Tauber, Maïthé (2013) Louvain médical — Vol. 132, no.N° spécial, p. 463 - 467 (2013)
    • Journal article
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
    Kaiser, Frank J. Ansari, Morad Braunholz, Diana Gil-Rodríguez, María Concepción Decroos, Christophe Wilde, Jonathan J. Fincher, Christopher T. Kaur, Maninder Bando, Masashige Amor, David J. Atwal, P.S. Bahlo, Melanie Bowman, Christine M. Bradley, Jacquelyn J. Brunner, Han G. Clark, Dinah Campo, Miguel Del Di Donato, Nataliya Diakumis, Peter Dubbs, Holly Dyment, David A. Eckhold, Juliane Ernst, Sarah Ferreira, Jose C. Francey, Lauren J. Gehlken, Ulrike Guillén-Navarro, Encarna Gyftodimou, Yolanda Hall, Bryan D. Hennekam, Raoul Hudgins, Louanne Hullings, Melanie Hunter, Jennifer M. Yntema, Helger Innes, A. Micheil Kline, Antonie D. Krumina, Zita Lee, Hane Leppig, Kathleen Lynch, Sally Ann Mallozzi, Mark B. Mannini, Linda Mckee, Shane Mehta, Sarju G. Micule, Ieva Consortium, Care Rare Canada Mohammed, Shehla Moran, Ellen Mortier, Geert R. Moser, Joe-Ann S. Noon, Sarah E. Nozaki, Naohito Nunes, Luis Pappas, John G. Penney, Lynette S. Pérez-Aytés, Antonio Petersen, Michael B. Puisac, Beatriz Revencu, Nicole[UCL] Roeder, Elizabeth Saitta, Sulagna Scheuerle, Angela E. Schindeler, Karen L. Siu, Victoria M. Stark, Zornitza Strom, Samuel P. Thiese, Heidi Vater, Inga Willems, P. Williamson, Kathleen Wilson, Louise C. Hakonarson, Hakon Quintero-Rivera, Fabiola Wierzba, Jolanta Musio, Antonio Gillessen-Kaesbach, Gabriele Ramos, Feliciano J. Jackson, Laird G. Shirahige, Katsuhiko Pié, Juan Christianson, David W. Krantz, Ian D. Fitzpatrick, David R. Deardorff, Matthew A. (2014) Human Molecular Genetics — Vol. 23, no. 11, p. 2888-2900 (2014)
    • BookChapter
    Cerebral cavernous malformation
    Revencu, Nicole[UCL] Vikkula, Miikka[UCL] (2009) Encyclopedia of molecular mechanism of disease — [ISBN : 978-3-540-33445-3]
    • Journal article
    Cerebral cavernous malformation: new molecular and clinical insights.
    Revencu, Nicole[UCL] Vikkula, Miikka[UCL] (2006) Journal of medical genetics — Vol. 43, no. 9, p. 716-21 (2006)
    • Journal article
    Correction:FOXP1-related intellectual disability syndrome: a recognisable entity
    Revencu, Nicole[UCL] (2017) Journal of Medical Genetics — Vol. 55, no.1, p. 72-73 (2017)
    • Journal article
    Unmasking Familial CPX by WES and Identification of Novel Clinical Signs
    Demeer, Bénédicte[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Devauchelle, Bernard François, Geneviève[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2018) American journal of medical genetics. Part A — Vol. 176, no. 12, p. 2661-2667 (2018)

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