World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2022). [PDF]
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Navigating Pompe Disease Assessment: A Comprehensive Scoping Review. [PDF]
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Predictors of Early Mortality in Cancer-Associated Thrombosis: Analysis of the RIETE Database. [PDF]
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[Rare diseases in a medical genetics service of population with social security]. [PDF]
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The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns. [PDF]
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Enfermedad de pompe: protocolo diagnóstico por el laboratorio clínico
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First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]
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Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]
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Genetic epidemiology of single gene defects in Chile. [PDF]
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