Browsing "1. Journal Papers" by Author : 8842

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Issue DateTitleJournal Title
2022Analysis of trio test in neurodevelopmental disorders FRONTIERS IN PEDIATRICS
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2023Genetic diagnosis of inborn errors of immunity using clinical exome sequencing FRONTIERS IN IMMUNOLOGY
2023Genotypes and phenotypes of DNM1 encephalopathyJOURNAL OF MEDICAL GENETICS
2023Maturity-onset diabetes of the young due to NR0B2 gene mutation ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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