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Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing

Sunghwan Shin, Jiwon Lee, Young-Gon Kim, Changhee Ha, Jong‐Ho Park, Jong‐Won Kim, Jeehun Lee, Ja‐Hyun Jang

2023Pediatric Neurology17 citationsDOIOpen Access PDF

Topics & Concepts

ProbandGeneticsWhole genome sequencingMedical geneticsDNA sequencingBiologyGenomicsGenomeGenetic testingGenePhenotypeGenetic heterogeneityHuman geneticsComputational biologyMutationGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchGenomic variations and chromosomal abnormalities