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Based on the diagnostic results, two families underwent prenatal diagnosis and had unaffected babies. The incorporation of exome-based CNV detection into conventional SNV/Indel analysis for a single trio-WES test significantly improved the diagnostic rate, making WES a more powerful, practical, and cost-effective tool in the clinical diagnosis of NDDs. Despite adequate medical treatment, many young adults with haemophilia develop joint alterations-especially in ankles and knees. Undetected over years, subtle structural changes cause su
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