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The genotype and phenotype correlation of Prader-Willi syndrome

First, do no harm: the role of preclinical animal models in predicting adverse events in gene therapy clinical trials for Duchenne muscular dystrophy and X-Linked myotubular myopathy

Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review

Special issue on Fabry disease - book 1: editorial

A landscape map of the key global rare disease organizations

The complexity of funding rare disease research: an IRDiRC assessment of the landscape

Non-viral gene therapy for neuromuscular diseases including Duchenne muscular dystrophy using nanovesicles derived from human cells

Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease

Patient organizations: advocating for timely newborn screening & improved quality of life

Framing the European Rare Diseases field through a structured movement of patient organisations

Fabry nephropathy: a treatable cause of chronic kidney disease