INVESTIGACIÓN EN ENFERMEDADES RARAS
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosPublicaciones en colaboración con investigadores/as de Children's Hospital of Philadelphia (6)
2024
-
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Clinical Epigenetics, Vol. 16, Núm. 1
-
The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346
2022
-
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
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
-
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196