نتائج البحث - MARTÍNEZ-FRÍAS, MARÍA-LUISA

The incidence of gastroschisis: Is also increasing in Spain, particularly among babies of young mothers حسب Bermejo, Eva, Mendioroz, Jacobo, Cuevas, Lourdes, Martínez-Frías, María-Luisa

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A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man حسب Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa

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A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations حسب Garrido-Allepuz, Carlos, Haro, Endika, González-Lamuño, Domingo, Martínez-Frías, María Luisa, Bertocchini, Federica, Ros, Maria A.

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Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report حسب Fernández-Toral, Joaquín, Rodríguez, Laura, Plasencia, Ana, Martínez-Frías, María Luisa, Ewers, Elisabeth, Hamid, Ahmed B, Ziegler, Monika, Liehr, Thomas

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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation حسب Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Martínez‐Fernandez, Maria Luisa, Martínez‐Frías, Maria Luisa, Fryns, Jean‐Pierre, Vermeesch, Joris Robert

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Wolf-Hirschhorn Syndrome Candidate-1 is necessary for correct hematopoietic and B cell development حسب Campos-Sanchez, Elena, Deleyto-Seldas, Nerea, Dominguez, Veronica, Carrillo-de-Santa-Pau, Enrique, Ura, Kiyoe, Rocha, Pedro P., Kim, JungHyun, Aljoufi, Arafat, Esteve-Codina, Anna, Dabad, Marc, Gut, Marta, Heyn, Holger, Kaneda, Yasufumi, Nimura, Keisuke, Skok, Jane A., Martinez-Frias, Maria Luisa, Cobaleda, Cesar

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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome حسب Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo

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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... حسب 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

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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... حسب 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

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Sirenomelia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review حسب ORIOLI, IÊDA M., AMAR, EMMANUELLE, ARTEAGA-VAZQUEZ, JAZMIN, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BOTTO, LORENZO D., CLEMENTI, MAURIZIO, CORREA, ADOLFO, CSAKY-SZUNYOGH, MELINDA, LEONCINI, EMANUELE, LI, ZHU, LÓPEZ-CAMELO, JORGE S., LOWRY, R. BRIAN, MARENGO, LISA, MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, PIERINI, ANNA, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, CASTILLA, EDUARDO E.

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Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research حسب MUTCHINICK, OSVALDO M., LUNA-MUÑOZ, LEONORA, AMAR, EMMANUELLE, BAKKER, MARIAN K., CLEMENTI, MAURIZIO, COCCHI, GUIDO, DUTRA, MARIA DA GRAÇA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, BRIAN, MARENGO, LISA K., MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MÉTNEKI, JULIA, MORGAN, MARGERY, PIERINI, ANNA, RISSMAN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, ARTEAGA-VÁZQUEZ, JAZMÍN

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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype حسب Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo

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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome حسب Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta

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