Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation

Published in Int J Circumpolar Health. Hjaltason H et al.…

Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy

Published in Ther Adv Rare Dis. Mitha A et al.…

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy

Published in Health Inf Sci Syst. Zhai W et al.…

Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective

Published in J Allergy Clin Immunol Glob. Alblooshi H et al.…