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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
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
    Kaiser, Frank J. Ansari, Morad Braunholz, Diana Gil-Rodríguez, María Concepción Decroos, Christophe Wilde, Jonathan J. Fincher, Christopher T. Kaur, Maninder Bando, Masashige Amor, David J. Atwal, P.S. Bahlo, Melanie Bowman, Christine M. Bradley, Jacquelyn J. Brunner, Han G. Clark, Dinah Campo, Miguel Del Di Donato, Nataliya Diakumis, Peter Dubbs, Holly Dyment, David A. Eckhold, Juliane Ernst, Sarah Ferreira, Jose C. Francey, Lauren J. Gehlken, Ulrike Guillén-Navarro, Encarna Gyftodimou, Yolanda Hall, Bryan D. Hennekam, Raoul Hudgins, Louanne Hullings, Melanie Hunter, Jennifer M. Yntema, Helger Innes, A. Micheil Kline, Antonie D. Krumina, Zita Lee, Hane Leppig, Kathleen Lynch, Sally Ann Mallozzi, Mark B. Mannini, Linda Mckee, Shane Mehta, Sarju G. Micule, Ieva Consortium, Care Rare Canada Mohammed, Shehla Moran, Ellen Mortier, Geert R. Moser, Joe-Ann S. Noon, Sarah E. Nozaki, Naohito Nunes, Luis Pappas, John G. Penney, Lynette S. Pérez-Aytés, Antonio Petersen, Michael B. Puisac, Beatriz Revencu, Nicole[UCL] Roeder, Elizabeth Saitta, Sulagna Scheuerle, Angela E. Schindeler, Karen L. Siu, Victoria M. Stark, Zornitza Strom, Samuel P. Thiese, Heidi Vater, Inga Willems, P. Williamson, Kathleen Wilson, Louise C. Hakonarson, Hakon Quintero-Rivera, Fabiola Wierzba, Jolanta Musio, Antonio Gillessen-Kaesbach, Gabriele Ramos, Feliciano J. Jackson, Laird G. Shirahige, Katsuhiko Pié, Juan Christianson, David W. Krantz, Ian D. Fitzpatrick, David R. Deardorff, Matthew A. (2014) Human Molecular Genetics — Vol. 23, no. 11, p. 2888-2900 (2014)