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Affichage: 4 résultats.
    • Article de périodique
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Cordisco, Maria Rosa Burrows, Patricia E Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dubois, Josée Baselga, Eulalia Brancati, Francesco Carder, Robin Quintal, José Miguel Ceballos Dallapiccola, Bruno Fischer, Gayle Frieden, Ilona J Garzon, Maria Harper, John Johnson-Patel, Jennifer Labrèze, Christine Martorell, Loreto Paltiel, Harriet J Pohl, Annette Prendiville, Julie Quere, Isabelle Siegel, Dawn H Valente, Enza Maria Van Hagen, Annet Van Hest, Liselot Vaux, Keith K Vicente, Asuncion Weibel, Lisa Chitayat, David Vikkula, Miikka[UCL] (2008) Human Mutation — Vol. 29, no. 7, p. 959-965 (2008)
    • Article de périodique
    LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    Gong, Yaoqin Slee, Roger B. Fukai, Naomi Rawadi, Georges Roman-Roman, Sergio Reginato, Anthony M. Wang, Hongwei Cundy, Tim Glorieux, Francis H. Lev, Dorit Zacharin, Margaret Oexle, Konrad Marcelino, Jose Suwairi, Wafaa Heeger, Shauna Sabatakos, George Apte, Suneel Adkins, William N. Allgrove, Jeremy Arslan-Kirchner, Mine Batch, Jennifer A. Beighton, Peter Black, Graeme C. Boles, Richard G. Boon, Laurence M.[UCL] Borrone, Carla Brunner, Han G. Carle, Georges F. Dallapiccola, Bruno De Paepe, Anne Floege, Barbara Halfhide, Melissa Lees Hall, Bryan Hennekam, Raoul C. Hirose, Tatsuo Jans, Ab Jüppner, Harald Kim, Chong Ae Keppler-Noreuil, Kim Kohlschuetter, Alfred LaCombe, Didier LAMBERT, Marie[UCL] Lemyre, Emmanuelle Letteboer, Tom Peltonen, Leena Ramesar, Rajkumar S. Romanengo, Marta Somer, Hannu Steichen-Gersdorf, Elisabeth Steinmann, Beat Sullivan, Beth Superti-Furga, Andrea Swoboda, Walter van den Boogaard, Marie-José Van Hul, Wim Vikkula, Miikka[UCL] Votruba, Marcela Zabel, Bernhard Garcia, Teresa Baron, Roland Olsen, Bjorn R. Warman, Matthew L. Osteoporosis-Pseudoglioma Syndrome Collaborative Group (2001) Cell — Vol. 107, no.4, p. 513-523 (2001)
    • Article de périodique
    FOXP1 -related intellectual disability syndrome: a recognisable entity
    Meerschaut, Ilse Rochefort, Daniel Revencu, Nicole[UCL] Pètre, Justine Corsello, Christina Rouleau, Guy A Hamdan, Fadi F Michaud, Jacques L Morton, Jenny Radley, Jessica Ragge, Nicola García-Miñaúr, Sixto Lapunzina, Pablo Bralo, Maria Palomares Mori, Maria Ángeles Moortgat, Stéphanie Benoit, Valérie Mary, Sandrine Bockaert, Nele Oostra, Ann Vanakker, Olivier Velinov, Milen de Ravel, Thomy JL Mekahli, Djalila Sebat, Jonathan Vaux, Keith K DiDonato, Nataliya Hanson-Kahn, Andrea K Hudgins, Louanne Dallapiccola, Bruno Novelli, Antonio Tarani, Luigi Andrieux, Joris Parker, Michael J Neas, Katherine Ceulemans, Berten Schoonjans, An-Sofie Prchalova, Darina Havlovicova, Marketa Hancarova, Miroslava Budisteanu, Magdalena Dheedene, Annelies Menten, Björn Dion, Patrick A Lederer, Damien Callewaert, Bert (2017) Journal of Medical Genetics — Vol. 54, no.9, p. 613-623 (2017)
    • Article de périodique
    Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome
    Lederer, Damien Grisart, Bernard Digilio, Maria Cristina Benoit, Valérie Crespin, Marianne Ghariani, Sophie Claire Maystadt, Isabelle Dallapiccola, Bruno Dumoulin, Christine[UCL] (2012) American Journal of Human Genetics — Vol. 90, no. 1, p. 119-124 (2012)