Maria Juliana
Ballesta Martinez
Asociado Ciencias de la Salud
Hospital Universitario Son Espases
Palma, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Son Espases (5)
2024
-
Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624
2023
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
2020
-
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Human Mutation, Vol. 41, Núm. 1, pp. 265-276