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Affichage: 3 résultats.
    • Article de périodique
    De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    Hoischen, Alexander Revencu, Nicole[UCL] van Bon, Bregje W. M. Gilissen, Christian Arts, Peer van Lier, Bart Steehouwer, Marloes de Vries, Petra de Reuver, Rick Wieskamp, Nienke Mortier, Geert Devriendt, Koen[UCL] Amorim, Marta Z. Kidd, Alexa Barbosa, Mafalda Turner, Anne Smith, Janine Oley, Christina Henderson, Alex Hayes, Ian M. Thompson, Elizabeth M. Brunner, Han G. de Vries, Bert B. A. Veltman, Joris A. (2010) Nature Genetics — Vol. 42, no. 6, p. 483-485 (2010)
    • 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
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
    Vegas, Nancy Demir, Zeynep Gordon, Christopher T Breton, Sylvain Romanelli Tavares, Vanessa L Moisset, Hugo Zechi-Ceide, Roseli Kokitsu-Nakata, Nancy M Kido, Yasuhiro Marlin, Sandrine Gherbi Halem, Souad Meerschaut, Ilse Callewaert, Bert Chung, Brian Revencu, Nicole[UCL] Lehalle, Daphné Petit, Florence Propst, Evan J Papsin, Blake C Phillips, John H Jakobsen, Linda Le Tanno, Pauline Thévenon, Julien McGaughran, Julie Gerkes, Erica H Leoni, Chiara Kroisel, Peter Tan, Tiong Y Henderson, Alex Terhal, Paulien Basel-Salmon, Lina Alkindy, Adila White, Susan M Passos-Bueno, Maria R Pingault, Véronique De Pontual, Loïc Amiel, Jeanne (2022) Human mutation — Vol. 43, no. 5, p. 582-594 (2022)