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Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia.
Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
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