- idUS
- Listar por autor
Listar por autor "Morillo Sánchez, María José"
Mostrando ítems 1-2 de 2
-
Artículo
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
González del Pozo, María; Fernández Suárez, Elena; Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Martín Sánchez, Marta; Rodríguez de la Rúa Franch, Enrique; Ramos Jiménez, Manuel; Morillo Sánchez, María José; Borrego, Salud; Antiñolo Gil, Guillermo (Nature Portfolio, 2022)To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ...
-
Artículo
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
García Delgado, Ana Belén; Valdes Sanchez, Lourdes; Morillo Sánchez, María José; Ponte-Zuñiga, Beatriz; Díaz-Corrales, Francisco J.; Cerda Haynes, Berta de la (BMC, 2021-05-17)Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents ...