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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
    Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
    Briggs, Tracy A Rice, Gillian I Adib, Navid Ades, Lesley Barete, Stephane Baskar, Kannan Baudouin, Veronique Cebeci, Ayse N Clapuyt, Philippe[UCL] Coman, David De Somer, Lien Finezilber, Yael Frydman, Moshe Guven, Ayla Heritier, Sébastien Karall, Daniela Kulkarni, Muralidhar L Lebon, Pierre Levitt, David Le Merrer, Martine Linglart, Agnes Livingston, John H Navarro, Vincent Okenfuss, Ericka Puel, Anne Revencu, Nicole[UCL] Scholl-Bürgi, Sabine Vivarelli, Marina Wouters, Carine Bader-Meunier, Brigitte Crow, Yanick J (2016) Journal of Clinical Immunology — Vol. 36, no. 5, p. 529-530 (2016)