Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)
Clinical and Functional Characterization of a Novel STUB1 Mutation in a Chinese Spinocerebellar Ataxia 48 Pedigree
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester
Infrared spectroscopy as a new approach for early Fabry disease screening: a pilot study
A latent profile analysis of health-related quality of life in patients with aplastic anemia
Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study
Early oxytocin treatment in infants with Prader-Willi is safe and is associated with better endocrine metabolic and behavior outcomes.
Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14
Angelman syndrome in Poland: current diagnosis and therapy status – the caregiver perspective – a questionnaire study
The global prevalence and genetic spectrum of primary carnitine deficiency
Learn more about Orphanet Journal of Rare Diseases