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Displaying 2 results.
    • Journal article
    Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
    Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M. Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E. Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves[UCL] Tolmie, John Touraine, Renaud Van Den Ende, Jenneke Van Der Aa, Nathalie Van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie (2014) European Journal of Human Genetics — Vol. 22, no. 11, p. 1272-1277 (2014)
    • 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)