Análisis clínicos
Especialidad
Hospital Universitario Central de Asturias
Oviedo, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (9)
2022
-
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
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
-
Cribado y diagnóstico prenatal de anomalías genéticas: Recomendaciones de consenso SEGO, SEQCML, AEDP
Advances in Laboratory Medicine, Vol. 1, Núm. 3
-
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268
2019
-
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
-
Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2018
-
What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
1991
-
Clinical pharmacokinetics of high-dose DTIC
Cancer Chemotherapy and Pharmacology, Vol. 28, Núm. 6, pp. 475-479