检索结果 - MacDermot, Kay

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

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

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Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits 由 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.

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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD 由 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

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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia 由 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

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