Zeitschrift
Orphanet Journal of Rare Diseases
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ResearchIncidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings
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ResearchPatient involvement in medical research: what patients and physicians learn from each other
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ResearchTreatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
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ResearchAssessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
