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Affichage: 2 résultats.
    • Article de périodique
    Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
    Verloes, Alain Di Donato, Nataliya Masliah-Planchon, Julien Jongmans, Marjolijn Abdul-Raman, Omar A Albrecht, Beate Allanson, Judith Brunner, Han Bertola, Debora Chassaing, Nicolas David, Albert Devriendt, Koen Eftekhari, Pirayeh Drouin-Garraud, Valérie Faravelli, Francesca Faivre, Laurence Giuliano, Fabienne Guion Almeida, Leina Juncos, Jorge Kempers, Marlies Eker, Hatice Koçak Lacombe, Didier Lin, Angela Mancini, Grazia Melis, Daniela Lourenço, Charles Marques Siu, Victoria Mok Morin, Gilles Nezarati, Marjan Nowaczyk, Malgorzata J M Ramer, Jeanette C Osimani, Sara Philip, Nicole Pierpont, Mary Ella Procaccio, Vincent Roseli, Zeichi-Seide Rossi, Massimiliano Rusu, Cristina Sznajer, Yves[UCL] Templin, Ludivine Uliana, Vera Klaus, Mirjam Van Bon, Bregje Van Ravenswaaij, Conny Wainer, Bruce Fry, Andrew E Rump, Andreas Hoischen, Alexander Drunat, Séverine Rivière, Jean-Baptiste Dobyns, William B Pilz, Daniela T (2015) European Journal of Human Genetics — Vol. 23, no.3, p. 292-301 (2014)
    • 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)