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Affichage: 3 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
    Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
    Ostergaard, Pia Simpson, Michael A Mendola, Antonella[UCL] Vasudevan, Pradeep Connell, Fiona C van Impel, Andreas Moore, Anthony T Loeys, Bart L Ghalamkarpour, Arash Onoufriadis, Alexandros Martinez-Corral, Ines Devery, Sophie Leroy, Jules G van Laer, Lut Singer, Amihood Bialer, Martin G McEntagart, Meriel Quarrell, Oliver Brice, Glen Trembath, Richard C Schulte-Merker, Stefan Makinen, Taija Vikkula, Miikka Mortimer, Peter S Mansour, Sahar Jeffery, Steve (2012) American journal of human genetics — Vol. 90, no.2, p. 356-62 (2012)
    • Article de périodique
    ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
    Sarkozy, Anna Hicks, Debbie Hudson, Judith Laval, Steve H Barresi, Rita Hilton-Jones, David Deschauer, Marcus Harris, Elizabeth Rufibach, Laura Hwang, Esther Bashir, Rumaisa Walter, Maggie C Krause, Sabine Van den Bergh, Peter[UCL] Illa, Isabel Pénisson-Besnier, Isabelle De Waele, Liesbeth Turnbull, Doug Guglieri, Michela Schrank, Bertold Schoser, Benedikt Seeger, Jürgen Schreiber, Herbert Gläser, Dieter Eagle, Michelle Bailey, Geraldine Walters, Richard Longman, Cheryl Norwood, Fiona Winer, John Muntoni, Francesco Hanna, Michael Roberts, Mark Bindoff, Laurence A Brierley, Charlotte Cooper, Robert G Cottrell, David A Davies, Nick P Gibson, Andrew Gorman, Gráinne S Hammans, Simon Jackson, Andrew P Khan, Aijaz Lane, Russell McConville, John McEntagart, Meriel Al-Memar, Ali Nixon, John Panicker, Jay Parton, Matt Petty, Richard Price, Christopher J Rakowicz, Wojtek Ray, Partha Schapira, Anthony H Swingler, Robert Turner, Chris Wagner, Kathryn R Maddison, Paul Shaw, Pamela J Straub, Volker Bushby, Kate Lochmüller, Hanns (2013) Human Mutation — Vol. 34, no.8, p. 1111-1118 (2013)