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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
2 articles
Newest firstBackgroundRare diseases are frequently associated with prolonged diagnostic odysseys and fragmented care, requiring coordination across multiple specialties and often leaving families to bridge gaps in medical knowledge among providers. Chromosome 8p disorders, caused by diverse structural rearrangements, exemplify these challenges, as clinical manifestations and management needs vary widely across genetic subgrou…
Open article record in new tab ↗ObjectiveRare diseases, including many rare genetic epilepsies and neurodevelopmental disorders, present significant challenges in timely diagnosis, treatment, and patient education due to their rare incidence, complex clinical nature and lack of standardized care pathways. Despite advancements in genetic testing, knowledge dissemination remains inadequate, contributing to delayed diagnosis and inconsistent manage…