Search Results - MacDermot, Kay

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  1. 1
    Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

    Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia by Vernes, Sonja C, MacDermot, Kay D, Monaco, Anthony P, Fisher, Simon E

    Published 2009
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  2. 2
    Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

    Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder by Newbury, Dianne F, Mari, Francesca, Sadighi Akha, Elham, MacDermot, Kay D, Canitano, Roberto, Monaco, Anthony P, Taylor, Jenny C, Renieri, Alessandra, Fisher, Simon E, Knight, Samantha J L

    Published 2013
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  3. 3
    Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

    Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits by MacDermot, Kay D., Bonora, Elena, Sykes, Nuala, Coupe, Anne-Marie, Lai, Cecilia S. L., Vernes, Sonja C., Vargha-Khadem, Faraneh, McKenzie, Fiona, Smith, Robert L., Monaco, Anthony P., Fisher, Simon E.

    Published 2005
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  4. 4
    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

    Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD by Renard, Marjolijn, Callewaert, Bert, Baetens, Machteld, Campens, Laurence, MacDermot, Kay, Fryns, Jean-Pierre, Bonduelle, Maryse, Dietz, Hal, Gaspar, Isabel Mendes, Cavaco, Diogo, Stattin, Eva-Lena, Schrander-Stumpel, Constance, Coucke, Paul, Loeys, Bart, De Paepe, Anne, De Backer, Julie

    Published 2011
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  5. 5
    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia by Allali, Slimane, Le Goff, Carine, PressaceDiebold, Isabelle, Pfennig, Gwendoline, Mahaut, Clémentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F, Crow, Yanick J, Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Geneviève, David, Hennekam, Raoul C, Hurst, Jane, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, Klaske D, Lynch, Sally A, Lyonnet, Stanislas, MacDermot, Kay, Mansour, Sahar, Megarbané, André, Santos, Heloisa G, Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valérie

    Published 2011
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