Diabetes in Patients with Ataxia telangiectasia: A National Cohort Study
Randomized clinical trials in ANCA-associated vasculitis: a systematic analysis of the WHO - International Clinical Trials Registry Platform.
Exome sequencing identified a novel pathogenic RET variant with high variable expressivity and incomplete penetrance in an extended pedigree with Hirschsprung disease
Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches
Longitudinal Cardiovascular Magnetic Resonance Imaging in Adults with Alström Syndrome: Silent Progression of Diffuse Interstitial Fibrosis.
A Retrospective Review of the Contribution of Rare Diseases to Paediatric Mortality in Ireland
Rare musculoskeletal diseases in adults: a research priority setting partnership with The James Lind Alliance
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study