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Genomic Landscape and Diagnostic Yield of Chromosomal Microarray Analysis in 471 Turkish Children with Neurodevelopmental Disorders and Congenital Anomalies

2026-06-18

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<title>Abstract</title> <p>Background Neurodevelopmental disorders (NDDs) and multiple congenital anomalies (MCAs) are highly heterogeneous conditions frequently driven by genomic copy number variations (CNVs). Chromosomal microarray analysis (CMA) is an established first-tier diagnostic test for detecting clinically relevant CNVs and remains the primary initial genetic test in many developing countries for pati...

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Literature Corpus work
59258eb6-0fc4-5762-86cf-e71b10000488
DOI
10.21203/rs.3.rs-9983885/v1
Open publication

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