Associated Papers
A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review.
Zubaidi AA et al.
Journal of Pediatric Genetics, 2024
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
Rustamov J et al.
Scientific Reports, 2024
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