Xenómica e Biomedicina

XB5

Foto de Xenómica e Biomedicina

Foto de Children's Hospital of Philadelphia

Children's Hospital of Philadelphia

Filadelfia, Estados Unidos

Publicacións en colaboración con investigadores/as de Children's Hospital of Philadelphia (4)

2024

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
European Journal of Human Genetics

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

2018

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Scientific Reports, Vol. 8, Núm. 1