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by Vidal, Silvia and Brandi, Núria and Pacheco, Paola and Gerotina, Edgar and Blasco, Laura and Trotta, Jean-Rémi and Derdak, Sophia and Del Mar O'Callaghan, Maria and Garcia-Cazorla, Àngels and Pineda, Mercè and Armstrong, Judith and Aguirre, Francisco Javier and Aleu, Montserrat and Alonso, Xènia and Alsius, Mercè and Inmaculada Amorós, Maria and Antiñolo, Guillermo and Aquino, Lourdes and Arellano, Carmen and Arriola, Gema and Arteaga, Rosa and Baena, Neus and Barcos, Montserrat and Belzunces, Nuria and Boronat, Susana and Camacho, Tomás and Campistol, Jaume and Del Campo, Miguel and Campo, Andrea and Cancho, Ramon and Candau, Ramon and Canós, Ignacio and Carrascosa, María Del Carmen and Carratalá-Marco, Francisco and Casano, Jovaní and Castro, Pedro and Cobo, Ana and Colomer, Jaime and Conejo, David and Corrales, Maria José and Cortés, Rocío and Cruz, Gabriel and Csányi, Gábor and De Santos, María Teresa and De Toledo, María and Toro, Mireia Del and Domingo, Rosario and Duat, Anna and Duque, Rosario and Esparza, Ana María and Fernández, Rosa and Fons, Maria Carme and Fontalba, Ana and Galán, Enrique and Gallano, Pia and Gamundi, María José and García, Pedro Luis and García, María Del Mar and García-Barcina, María and Garcia-Catalan, María Jesús and García-Miñaur, Sixto and Garcia-Peñas, Juan Jose and García-Silva, María Teresa and Gassio, Rosa and Geán, Esther and Gil, Belén and Gökben, Sarenur and Gonzalez, Luis and Gonzalez, Veronica and Gonzalez, Julieta and González, Gloria and Guillén, Encarna and Guitart, Miriam and Guitet, Montserrat and Gutierrez, Juan Manuel and Gutiérrez, Eva and Herranz, Jose Luís and Iglesias, Gemma and Karacic, Iva and Lahoz, Carlos H and Lao, José Ignacio and Lapunzina, Pablo and Lautre-Ecenarro, María Jesús and Lluch, María Dolores and López, Laura and López-Ariztegui, Asunción and Macaya, Alfons and Marín, Rosario and Marquez, Charles M. Lourenço and Martín, Elena and Martínez, Beatriz and Martínez-Salcedo, Eduardo and Mas, María José and Mateo, Gonzalo and Mendez, Pilar and Jimenez, Amparo Morant and Moreno, Sira and Mulas, Fernando and Narbona, Juan and Nascimento, Andrés and ... and Rett Working Grp and Rett Working Group
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 12288 - 11
... diagnostics in Rett syndrome Silvia Vidal1, Núria Brandi2, Paola Pacheco1, Edgar Gerotina1, Laura Blasco1, Jean-Rémi Trotta3, Sophia Derdak3, Maria del Mar... 
INTELLECTUAL DISABILITY | CRITERIA | AUTISM | DE-NOVO MUTATIONS | DATABASE | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | DYSFUNCTION | EPILEPSY | GENOME | DISCOVERY | Foxg1 protein | Methyl-CpG binding protein | MeCP2 protein | Etiology | Rett syndrome | Neurodevelopmental disorders | Age | Genetic screening
Journal Article
2001, 1. ed. [facsímil], Nueva dimensión Argentina, ISBN 9789505117512, 346
Book
2001, Monografías de misiones y misioneros Agustinianos, ISBN 8485985702, Volume 12, 338
Book
by Barrios Tascón, Ana and Centeno Malfaz, Fernando and Rojo Sombrero, Henar and Fernández-Cooke, Elisa and Sánchez-Manubens, Judith and Pérez-Lescure Picarzo, Javier and de la Torre, Leticia Albert and Martín, Carlos Alcalde and Álvarez-Fuente, María and Rodríguez, Carolina Blanco and García, Gemma Giralt and Gutiérrez-Larraya, Federico and Navarro, Libertad Latorre and Sánchez Andrés, Antonio and Vázquez, Belén Toral and McMullan, Paula de Vera and Pérez, Georges Akel and Alados Arboledas, Francisco Javier and Martín, Carlos Alcalde and Echauri, Josune Alegría and García, Patricia Aparicio and Arévalo, Paola and Rofes, August Armengol and Sánchez, María Arroyas and Balbacid Domingo, Enrique José and Rodrigo, Antonio Baño and Barcudi Abbona, María Silvina and Fernández, Isabel Barranco and Tascón, Ana Barrios and Bernáldez Torralva, Clara María and Jover, Enrique Blanca and Rodríguez, Carolina Blanco and Trigo, Sonia Blázquez and Bravo Sayago, María Jose and Caldeiro Díaz, María Jesús and Cantero Tejedor, María Teresa and Carrasco Moreno, José Ignacio and Blesa, Carmen Carreras and Carretero Bellón, Juan Manuel and Cassanello, María Pia and Malfaz, Fernando Centeno and Cis Spoturno, Adela Cristina and Hernández, Rosa Collell and Costa Orvay, Juan Antonio and Marcos, David Crespo and Cuéllar Manotas, Héctor Augusto and Peiro, Victorio Cuenca and Patricia de Caro, Adalgisa and de la Parte Cancho, María and Degano Iglesias, Lucas Alberto and Bronte, Lucía Deiros and Menéndez, Beatriz del Pozo and Megías, Laura del Rey and Tomás, Juan José Díez and Colina, Paola Dolader and García, Olga Domínguez and Domínguez Garrido, María Nieves and Manzano, Paula Domínguez and Bedoya, Jesús Duque and Espinosa, Javier Echeverría and Echeverría Nava, Fidel Ernesto and Escobar Pinela, Hemir David and Asenjo, María Esquivias and Fariña Ruiz, Ana Patricia and Aracama, Javier Fernández and Sarabia, Javier Fernández and Fernández Soria, María Teresa and Suárez, Natalia Fernández and Belda, Aina Ferré and Villar, Sergio Flores and García, Julio Fontenla and Moure, Ángeles Fuertes and García de Vinuesa, Antonia Pastora Gallego and Arzoz, Marta Gambra and Angleu, Francisco García and Cerro, Estefanía García and Rodríguez-Monte, María Elvira Garrido-Lestache and Villanueva, Nuria Gil and Crespo, Maribel Giner and García, Gema Giralt and González Carrasco, María Ersilia and González Marín, María Aránzazu and Menchén, Cristina González and Ipiña, Fernando Gran and Rodríguez, Inmaculada Guillén and Guixeres Esteve, María Teresa and Gómez, Manuel Haro and Blanco, Aida Hernández and Sánchez, Yolanda Herranz and del Rey, Carmen Herrera and Fernández, Aleida Ibañez and Martín, Gema Iñigo and Fos, Ignacio Izquierdo and Izquierdo Riezu, María Ángeles and Jiménez Casso, María Soledad and Montañés, Lorenzo Jiménez and Labrandero de Lera, Carlos and Navarro, Libertad Latorre and Abel, Bernardo López and Balseiro, María Lozano and ... and en representación del Grupo de Cardiología Clínica SECPCC and Working Group on Clinical Cardiology of the Sociedad Española de Cardiología Pediátrica y Cardiopatías Congénitas SECPCC and Members that contributed directly to the development of this document
Anales de Pediatría (English Edition), ISSN 2341-2879, 09/2018, Volume 89, Issue 3, pp. 188.e1 - 188.e22
Kawasaki disease is a self-limiting acute vasculitis that affects small and medium-sized vessels, and is the most common cause of acquired heart disease in... 
Immunoglobulins | Intravenous | Aneurisma | Aneurysm | Aneurisma coronario | Consenso | Consensus | Arteritis | Coronary aneurysm | Enfermedad de Kawasaki | Corticoides | Kawasaki disease | Vasculitis | Coronary vessels | Inmunoglobulina intravenosa | Arterias coronarias | Mucocutaneous lymph node syndrome | Síndrome linfomucocutáneo | Steroids
Journal Article
by Sánchez, Alvaro and Silvestre, Carmen and Campo, Natalia and Grandes, Gonzalo and Plaza, Carmen Maturana and de Miguel Sanz, Carmen Mendinueta Maider and Viciana, Amaia Páez and Linacisoro, María Lierni and Sáenz, María Pilar and Rengel, José Miguel and Salazar, María José and Asenjo, Ángeles and Semperena, Coro and Garde, Esperanza and Aguirre, María Asunción and Míguez, María and Coloma, Mercedes and Bergera, Nora and Alonso, Isabel González and Isasmendi, Concepción and Torrecilla, Mercedes and Soto, Adela and Areta, Marisol and Felipe, Enma and Cuervo, Mariví and González, Ainhoa and Arbosa, Flor and García, Javier and Gutiérrez, Nerea and Aguirre, María Jesús Arratibel and Sánchez, Naiara Aramburu and Arnaiz, Irati Iza and Azcune, Arantxa and Lizaso, Elena and Iparraguirre, Janire and Goenaga, Lourdes and Errasti, Ana and García, María Luisa and Loyola, Miren Elixabet and Arruti, Amaia and Benítez, Ascensión and Domínguez, Imanol and Badiola, José Luis and Bernaras, María Jesús and Vidaror, Pedro and Fernández, Julia Huertas and Montiaga, Idoia Herrero and Pérez, Felix Menéndez and Ruiz, Judit Oribe and Alkiza, Iñigo and Careaga, María Ángeles López and González, Alberto López and Diez, Esperanza and Arce, Nagore and Rodríguez, Benedicta and Urrejola, Juana María Álava and Erviti, Elena and Cabrerizo, Ana and Quintana, Eva and Juan, Lourdes De and Ochoteco, María and Inda, Arantza and Becerra, Judit and López, Carmen and Idoiaga, Itxaso and Roca, Isabel and Monge, Maite and Cabrerizo, Ana Isabel and Gómez, Marta Pérez and Ansó, Mario Dolores Delgado and Martínez, Mario del Camino Alegre and Idirin, Marta Hierro and Villegas, Pilar Etxebarria and Sáenz, Juan Ignacio Salgado and Echevarría, Mónica Prieto and Aedo, Pilar Calvo and Paskual, Agurtzane and Beltrán, Milagros Aramburu and Chasco, Rocío Arina and Martínez, Esteban Sampedro and Alzugarai, Oihana Saiz and Lizargarte, Rosa Oronoz and Goya, Maisabel Maya and Liñero, Beatriz Larrinaga and Gaínza, Maria Angeles Sola and Ganzarain, Marian and Asenjo, Soledad and Oyarzun, Remedios and Espina, Rosa and Aranzadi, Onintza and Etxabe, Maddi and de Gracia, Araceli and Díaz, Gemma and Balague, Laura and Gañan, Nuria and Alberdi, Eider and Gil, Mercedes and Salaverría, Rosa and Alvarez, Mercedes and Guinea, Ana and ... and PreDE Res Grp and PreDE research group and on behalf of the PreDE research group
Trials, ISSN 1745-6215, 05/2016, Volume 17, Issue 1, p. 254
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 11/2018, Volume 72, Issue 20, pp. 2457 - 2467
Journal Article
2000, 1. ed., Memoria de Chile. Personajes, ISBN 9562472493, 188
Book
by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
Journal Article
Cuadernos LIRICO, ISSN 2263-2158, 09/2013
Este número de Cuadernos LIRICO está dedicado a Ana María Barrenechea, destacada profesora e investigadora argentina que fue maestra de varias generaciones... 
Journal Article
American Journal of Hematology, ISSN 0361-8609, 03/2015, Volume 90, Issue 3, pp. E40 - E43
Journal Article
by López, María and Mayer, Celia and Fernández-García, Laura and Blasco, Lucía and Muras, Andrea and Ruiz, Federico Martín and Bou, German and Otero, Ana and Tomás, María and Rodríguez-Baño, Jesús and Pascual, Alvaro and Fernández Cuenca, Felipe and Pachón, Jerónimo and Cisneros, Jose Miguel and Garnacho, José and Gutierrez-Pizarraya, Antonio and Márquez-Vácaro, Juan Antonio and Martínez-Martínez, Luis and Cano, María Eliecer and Fariñas, M. Carmen and Vila, Jordi and Sánchez-Porto, Antonio and Meruendano, Gloria Esteban and Barbeyto-Vales, Luis and Casas-Ciria, Javier and Vallejo, Luis and Fernández-Pérez, Begona and Villar-Chao, José Carlos and Padilla-Ortega, Belén and Cercenado-Mansilla, Emilia and García-Irure, José Javier and Jiménez, Alfonso Del Arco and Gimeno-Cardona, Concepción and Valía, Juan Carlos and Tormo-Palop, Núria and Abril, Vicente and Rifa, Josefina and Martinez-Garcia, Maria Jesus and Vilaró-Pujals, Joseph and Aguirre, Marian Navarro and Vilamala, Ana and Jiménez-Alfaro, José Antonio and Reviejo-Jaca, Carlos and Casanova, Pilar Marín and Guerreo, Francisca and Shaw, Evelyn and Plasencia, Virginia and Nebreda-Mayoral, Teresa and Fernández-Calavia, María José and De Cruz, Susana García and Aldea-Mansilla, Carmen and De Lucas, Esperanza Merino and Zorraquino, Alfredo and Reus-Bañuls, Sergio and Garduno-Eseverri, Eugenio and Sánchez, Luis López and Fleites-Gutiérrez, Ana and Rodríguez-Guardado, Azucena and Moreno, Alfonso and Anguera, José María García-Arenzana and López-Palmero, Serafín and Rodríguez-Maresca, Manuel and García-Garrote, Fernando and Varela-Otero, José and Alonso, María Del Pilar and Vidal-Verdú, Elisa and Rodríguez-López, Fernando and Pardo-Sánchez, Fernanda and Ferrer-Vizoso, E and Regueiro-Garcia, B and Gurgui, Mercé and Pericas, Roser and Pomar, Virginia and Olaechea-Astigarraga, Pedro María and Ayarza-Igartua, Rafael and Maciá-Romero, María Dolores and De Gopegui-Bordes, Enrique Ruiz and Sánchez-Romero, María Isabel and García-Mata, Jesús and Goyanes, María José and Morales-Mateos, Cristina and Hernández-Quero, José and Escobar-Lara, Trinidad and Ballester-Bastardie, Frederic and Iftimie, Simona and Pujol-Bajador, Isabel and Galán-Navarro, María Isabel and Cádiz-Gurrea, María Luz and Amores-Antequera, Carmen and Cantudo, Montserrat Gómez Purificación and Martí-Salas, Carmina and Cuquet-Peragosa, Jordi and Moreno-Flores, Antonio and Anibarro-García, Luis and Hernando-Real, Susana and Carrero-González, Pablo A and Pallarés-González, María Angeles and Rodríguez-Fernández, Sergio and Pujol-Rojo, Miquel and Tubau, Fe and ... and GEIH-GEMARA SEIMC and GEIH-GEMARA (SEIMC) and on behalf of the GEIH-GEMARA (SEIMC)
PLoS ONE, ISSN 1932-6203, 03/2017, Volume 12, Issue 3, p. e0174454
Journal Article