A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

по Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
Опубликовано в: Hum Genome Var (2015)

Prevalence of resistance associated substitutions and efficacy of baseline resistance-guided chronic hepatitis C treatment in Spain from the GEHEP-004 cohort

по Pérez, Ana Belén, Chueca, Natalia, Macías, Juan, Pineda, Juan Antonio, Salmerón, Javier, Rivero-Juárez, Antonio, Hidalgo-Tenorio, Carmen, Espinosa, María Dolores, Téllez, Francisco, Von-Wichmann, Miguel Ángel, Omar, Mohamed, Santos, Jesús, Hernández-Quero, José, Antón, José Joaquin, Collado, Antonio, Lozano, Ana Belén, García-Deltoro, Miguel, Casado, Marta, Pascasio, Juan Manuel, Selfa, Aida, Rosales, José Miguel, De la Iglesia, Alberto, Arenas, Juan Ignacio, García-Bujalance, Silvia, Ríos, María José, Bernal, Enrique, Martínez, Onofre, García-Herola, Antonio, Vélez, Mónica, Rincón, Pilar, García, Federico
Опубликовано в: PLoS One (2019)

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

по Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Опубликовано в: Genes (Basel) (2021)