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Displaying 2 results.
    • Journal article
    Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Zweier, Christiane Peippo, Maarit M. Hoyer, Juliane Sousa, Sergio Bottani, Armand Clayton-Smith, Jill Reardon, William Saraiva, Jorge Cabral, Alexandra Goehring, Ina Devriendt, Koen de Ravel, Thomy Bijlsma, Emilia K. Hennekam, Raoul C. M. Orrico, Alfredo Cohen, Monika Dreweke, Alexander Reis, Andre Nuernberg, Peter Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 5, p. 994-1001 (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)