Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Cristina Torreira Banzas"'
Autor:
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Abstract Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of targ
Externí odkaz:
https://doaj.org/article/349bbb0f700a431083cd99f349786e3a
Autor:
Alfredo Reparaz Andrade, María Santamaría González, María José Alcaine, Ana Cuesta Peredo, Clara Gómez González, Pilar Carrasco Salas, Cristina Torreira Banzas, Reyes Granell Escobar, Carmen Prior de Castro, Begoña Ezquieta Zubicaray
Publikováno v:
Revista del Laboratorio Clínico. 12:27-37
Resumen El termino diagnostico prenatal comprende todas las modalidades de diagnostico dirigidas a detectar durante la gestacion una anomalia congenita que incluya trastornos estructurales o funcionales. Un porcentaje de las mismas se debe a factores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aa73dab4a6bf2c386d6b7566ce16023
https://doi.org/10.1016/j.labcli.2018.10.001
https://doi.org/10.1016/j.labcli.2018.10.001
Autor:
Fátima Gimeno-Ferrer, Carola Guzmán Luján, Enrique Galán Gómez, Inés Quintela, Montserrat Aleu Pérez-Gramunt, David Albuquerque, Raquel Rodríguez-López, Virginia Ballesteros Cogollos, Cristina Torreira Banzas, Goitzane Marcaida Benito, Alfredo Repáraz-Andrade
Publikováno v:
Journal of human genetics. 64(3)
Syndromic monogenic obesity is a rare and severe early-onset form of obesity. It is characterized by intellectual disability, congenital malformations, and/or dysmorphic facies. The diagnosis of patients is challenging due to the genetic heterogenici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fd26a5afcc3e4af0ab4cd4d9853539
https://pubmed.ncbi.nlm.nih.gov/30518945
https://pubmed.ncbi.nlm.nih.gov/30518945
Autor:
Alfredo Repáraz-Andrade, María Isidoro-García, Noelia García-González, Mónica Viejo-Díaz, Ana Plasencia, Cristina Torreira-Banzas, Faustino Núñez-Batalla, Nancy Govea, Rebeca Álvarez, María Costales, Gonzalo R. Ordóñez, Noelia Sánchez-Durán, Marta Diñeiro, Raquel Capín, David Castillo, Justo R. Gómez-Martínez, Patricia C. Pruneda, Juan Cadiñanos, Jordi Rosell, Ángel Mazón-Gutiérrez, Belén García-Berrocal, José Luis Llorente, Inés Hernando, José Antonio Garrote, Rubén Cabanillas, Guadalupe A. Cifuentes
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Background: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00944c691e692906bdbc488fb1deab92
https://hdl.handle.net/20.500.13003/9217
https://hdl.handle.net/20.500.13003/9217
Autor:
Alfredo Reparaz Andrade, Jose Ramon Fernandez Lorenzo, Victor del Campo Pérez, Alfonso Amado Puentes, Cristina Torreira Banzas, Manuel Oscar Blanco Barca, Aida Del Campo Garcia
Publikováno v:
European Journal of Paediatric Neurology. 21:e59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2f1edf0465612b4324e98c45025ce4f
https://doi.org/10.1016/j.ejpn.2017.04.916
https://doi.org/10.1016/j.ejpn.2017.04.916