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ORPHANET JOURNAL OF RARE DISEASES
Rivista
Codice:
E191009
ISSN:
1750-1172
Dati Generali
Dati Generali
Pubblicazioni (7)
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
Articolo
Gene therapy in rare diseases: The benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID
Articolo
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea
Articolo
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology
Articolo
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
Articolo
Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)
Articolo
The empowerment of translational research: lessons from laminopathies
Articolo
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