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Displaying 1 - 25 of 73 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
    PEDIA: prioritization of exome data by image analysis.
    Hsieh, Tzung-Chien Mensah, Martin A Pantel, Jean T Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi B Biskup, Saskia Borisov, Oleg Braaten, Oivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja Eden, Hilda David Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Đukić, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J Mangold, Elisabeth Reina, Purificación Marín Carrascal, Antonio Martinez Mitter, Diana Herrador, Laura Morlan Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole[UCL] Fagerberg, Christina Ringmann Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kyung Sznajer, Yves[UCL] Thiel, Christian T Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wiśniewska, Marzena Wollnik, Bernd Yeung, Ming W Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M (2019) Genetics in medicine — Vol. 21, no.12, p. 2807-2814 (2019)
    • BookChapter
    Arteriovenous malformation in mice and men
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2008) Tumor angiogenesis — [ISBN : 978-3-540-33176-6]
    • 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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