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2006, 1. ed., ISBN 9788401379611, 398 p., [48] p. of plates
Book
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Human Mutation, ISSN 1059-7794, 01/2013, Volume 34, Issue 1, pp. 79 - 82
Journal Article
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
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been... 
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 | Index Medicus
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