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Affichage: 2 résultats.
    • Article de périodique
    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)
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)