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Displaying 2 results.
    • Journal article
    Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Zweier, Christiane Peippo, Maarit M. Hoyer, Juliane Sousa, Sergio Bottani, Armand Clayton-Smith, Jill Reardon, William Saraiva, Jorge Cabral, Alexandra Goehring, Ina Devriendt, Koen de Ravel, Thomy Bijlsma, Emilia K. Hennekam, Raoul C. M. Orrico, Alfredo Cohen, Monika Dreweke, Alexander Reis, Andre Nuernberg, Peter Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 5, p. 994-1001 (2007)
    • Journal article
    PEDIA: prioritization of exome data by image analysis.
    Hsieh, Tzung-Chien Mensah, Martin A Pantel, Jean T Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi B Biskup, Saskia Borisov, Oleg Braaten, Oivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja Eden, Hilda David Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Đukić, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J Mangold, Elisabeth Reina, Purificación Marín Carrascal, Antonio Martinez Mitter, Diana Herrador, Laura Morlan Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole[UCL] Fagerberg, Christina Ringmann Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kyung Sznajer, Yves[UCL] Thiel, Christian T Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wiśniewska, Marzena Wollnik, Bernd Yeung, Ming W Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M (2019) Genetics in medicine — Vol. 21, no.12, p. 2807-2814 (2019)