User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

All Publications

Displaying 3 results.
    • Journal article
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
    Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G Nassogne, Marie-Cécile[UCL] Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O M Wilson, Louise Yuen, Amy Study, Ddd Low, Karen J Newbury-Ecob, Ruth A (2018) European Journal of Human Genetics — Vol. 26, no. 1, p. 64-74 (2018)
    • Journal article
    Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele FitzPatrick, David R. Nuernberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L. Chitayat, David Houge, Gunnar Fernandez-Martinez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C. M. von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nuernberg, Peter Reis, Andre Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 3, p. 550-560 (2007)
    • Journal article
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Banka, Siddharth Veeramachaneni, Ratna Reardon, William Howard, Emma Bunstone, Sancha Ragge, Nicola Parker, Michael J Crow, Yanick J Kerr, Bronwyn Kingston, Helen Metcalfe, Kay Chandler, Kate Magee, Alex Stewart, Fiona McConnell, Vivienne P M Donnelly, Deirdre E Berland, Siren Houge, Gunnar Morton, Jenny E Oley, Christine Revencu, Nicole[UCL] Park, Soo-Mi Davies, Sally J Fry, Andrew E Lynch, Sally Ann Gill, Harinder Schweiger, Susann Lam, Wayne W K Tolmie, John Mohammed, Shehla N Hobson, Emma Smith, Audrey Blyth, Moira Bennett, Christopher Vasudevan, Pradeep C García-Miñaúr, Sixto Henderson, Alex Goodship, Judith Wright, Michael J Fisher, Richard Gibbons, Richard Price, Susan M C de Silva, Deepthi Temple, I Karen Collins, Amanda L Lachlan, Katherine Elmslie, Frances McEntagart, Meriel Castle, Bruce Clayton-Smith, Jill Black, Graeme C Donnai, Dian (2012) European Journal of Human Genetics — Vol. 20, no.4, p. 381-388 (2011)