Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 2020 | A six-attribute classification of genetic mosaicism | Martinez-Glez, Víctor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez-Jurado, Luis Alberto; Ruiz-Pérez, Victor L. CSIC ORCID; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo | artículo |
openAccess | | 10-may-2021 | Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications | Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Pozo-Valero, Marta del; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jiménez-Rolando, Belén; López-Rodríguez, Rosario; Lorda-Sánchez, Isabel; Martín Mérida, Inmaculada; Pérez de Ayala, Lucía; Riveiro-Álvarez, Rosa; Rodríguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, María J.; García-Sandoval, Blanca; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Ayuso, Carmen | corrigenda |
closedAccess | | 2018 | CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype | Rodriguez-Laguna, Lara; Ibáñez, Kristina; Gordo, Gema; García-Miñaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia CSIC; Vallespin, Elena; Fernández-Montaño, Victoria E.; Martín-Arenas, Rubén; Pozo, Angela del; González-Pecellín, Héctor; Mena, Rocío; Rueda-Arenas, Inmaculada; Gomez, María V.; Villaverde, Cristina; Bustamante, Ana; Ayuso, Carmen; Ruiz-Pérez, Victor L. CSIC ORCID; Nevado, Julian; Lapunzina, Pablo; Lopez-Gutierrez, Juan C.; Martinez-Glez, Víctor | artículo |
closedAccess | | 2019 | Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients | Tenorio, Jair; Alarcón, Pablo; Arias, Pedro; Dapía, Irene; García-Miñaur, Sixto; Palomares, María; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio CSIC; Martínez Monseny, Antonio; López Grondona, Fermina; Botet, Javier CSIC; Serrano, Mercedes; Solís, Mario; Santos-Simarro, Fernando; Álvarez, Sara; Teixidó-Tura, Gisela; Fernández Jaén, Alberto; Gordo, Gema; Bardón Rivera, María Belén; Nevado, Julian; Hernández, Alicia; Cigudosa, Juan C.; Ruiz-Pérez, Victor L. CSIC ORCID; Tizzano, Eduardo F.; Lapunzina, Pablo | artículo |
openAccess | | 15-ene-2021 | Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications | Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Pozo-Valero, Marta del; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jiménez-Rolando, Belén; López-Rodríguez, Rosario; Lorda-Sánchez, Isabel; Martín Mérida, Inmaculada; Pérez de Ayala, Lucía; Riveiro-Álvarez, Rosa; Rodríguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, María J.; García-Sandoval, Blanca; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Ayuso, Carmen | artículo |