Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of...

Por Bermejo-Sánchez, Eva, Cuevas, Lourdes, Amar, Emmanuelle, Bianca, Sebastiano, Bianchi, Fabrizio, Botto, Lorenzo D., Canfield, Mark A., Castilla, Eduardo E., Clementi, Maurizio, Cocchi, Guido, Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Szabova, Elena, Martínez-Frías, María-Luisa
Publicado no Am J Med Genet C Semin Med Genet (2011)

Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

Por Orioli, Iêda M., Amar, Emmanuelle, Bakker, Marian K., Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Canfield, Mark A., Clementi, Maurizio, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Szabova, Elena, Castilla, Eduardo E.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Lite...

Por BERMEJO-SÁNCHEZ, EVA, CUEVAS, LOURDES, AMAR, EMMANUELLE, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BIANCHI, FABRIZIO, CANFIELD, MARK A., CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MASTROIACOVO, PIERPAOLO, MUTCHINICK, OSVALDO M., RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, MARTÍNEZ-FRÍAS, MARÍA-LUISA
Publicado no Am J Med Genet C Semin Med Genet (2011)

Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

Por SIFFEL, CSABA, CORREA, ADOLFO, AMAR, EMMANUELLE, BAKKER, MARIAN K., BERMEJO-SÁNCHEZ, EVA, BIANCA, SEBASTIANO, CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, CSÁKY-SZUNYOGH, MELINDA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MARENGO, LISA K., MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, MUTCHINICK, OSVALDO M., PIERINI, ANNA, RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, OLNEY, RICHARD S.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Por Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, van Haaften, Gijs, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., de Vries, Bert B.A., van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C.
Publicado no Am J Hum Genet (2015)