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Article
Open AccessBeyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes.
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Article
Open AccessMissense variant contribution to USP9X-female syndrome
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partia...
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Article
Non-invasive measurement of erythrocyte zinc protoporphyrin in children
Reliable screening for iron deficiency (ID) has required a blood sample and cost-intensive laboratory measurements. A novel method to non-invasively measure erythrocyte zinc protoporphyrin (ZnPP), an establish...
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Article
Open AccessExercise training in pulmonary arterial hypertension associated with connective tissue diseases
The objective of this prospective study was to assess short- and long-term efficacy of exercise training (ET) as add-on to medical therapy in patients with connective tissue disease-associated pulmonary arteri...
