Autor: Latest Results
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Mitochondrial stress markers associate with phenotypic variability in Fabry disease
Background Objective Methods Results …
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Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy
Background Main body Conclusion Graphical Ab…
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Mortality trends and socioeconomic inequalities in sickle cell disease in Colombia, 2012–2023: a population-based study
Background Methods Results Conclusions …
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Fatigue and pain in children with multiple osteochondromas: a cross-sectional study
Background Methods Results Conclusion …
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Fatigue and pain in children with multiple osteochondromas: a cross-sectional study
Background Methods Results Conclusion …
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Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing
Introduction Aim of the study Patients and methods …
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Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysis
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Health service access and delivery for people living with rare disorders: a scoping review
Background Methods Findings Interpretation …