Dano de ADN y Cromosomas-Toxicoxenética
Hospital Universitario Marqués de Valdecilla
Santander, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (5)
2021
-
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
-
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2019
-
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
Frontiers in Neuroscience, Vol. 13
2014
-
A novel mutation in adamts13 of a child with upshaw-schulman syndrome
Thrombosis and Haemostasis
-
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): A short review
Thrombosis Research, Vol. 134, Núm. 6, pp. 1171-1175