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Affichage: 2 résultats.
    • Article de périodique
    Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
    Ostrowski, Philip J Zachariou, Anna Loveday, Chey Baralle, Diana Blair, Edward Douzgou, Sofia Field, Michael Foster, Alison Kyle, Claire Lachlan, Katherine Mansour, Sahar Naik, Swati Rea, Gillian Smithson, Sarah Sznajer, Yves[UCL] Thompson, Elizabeth Cole, Trevor Tatton-Brown, Katrina (2019) American journal of medical genetics. Part C, Seminars in medical genetics — Vol. 181, no. 4, p. 638-643 (2019)
    • 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)