Search Results - "Chowdhury, Ashfia"
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Influence of ethnicity on biochemical markers of health and disease in the CALIPER cohort of healthy children and adolescents
Published in Clinical chemistry and laboratory medicine (26-03-2020)“…Background Accurate pediatric reference intervals (RIs) for laboratory tests determined in a healthy pediatric population are essential for correct laboratory…”
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Published in Genetics in medicine (01-02-2024)“…To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. We prospectively…”
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Journal Article