A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Cost-of-illness studies in rare diseases: a scoping review

Mortalidad atribuida a telangiectasia hemorrágica hereditaria y variabilidad geográfica en España (1981-2016)

Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories.

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

Early Detection and Intervention of ASD: A European Overview

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

Recommendations for Improving the Quality of Rare Disease Registries

Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations

Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain