Search Results - "Vo, Ta Son"
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Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports
Published in Molecular genetics & genomic medicine (01-06-2024)“…Background De novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and…”
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Journal Article -
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The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy
Published in Personalized medicine (2024)“…Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study…”
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Journal Article