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Showing results for "lung disease preterm"

Acute Rheumatic Fever and Chronic Rheumatic Disease

This chapter describes the epidemiology, pathogenesis, clinical manifestations, diagnostic criteria, and management principles of acute rheumatic fev…

Burden of disease and barriers to comprehensive care for rheumatic heart disease in South Africa: an updated systematic review protocol

Rheumatic heart disease (RHD) is responsible for a significant burden of cardiovascular morbidity and mortality, and remains the most common cause of…

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic var…

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to a…

Invasive pneumococcal disease in children with acute lymphoblastic leukaemia

To determine the incidence, serotype distribution and clinical outcomes of invasive pneumococcal disease in children with acute lymphoblastic leukaem…

The United Nations convention on rare diseases—A framework for research prioritization

drug; rare disease (RD); rare disease diagnosis; rare disease registry framework; rare disease research

The Kids researchers named finalists in 2024 Premier’s Science Awards

renowned for her pioneering work in mitochondrial disease and synthetic biology, has developed paradigm-shifting ... work focused on reducing the chr…