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A. Sokolova

1 paper indexed here

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Open access Jul 2026

RESULTS OF WHOLE EXOME SEQUENCING IN NEONATES WITH NEONATAL ENCEPHALOPATHY

Objective: to assess the detection rate of monogenic disorders in neonates with encephalopathy using whole-exome sequencing. Materials and Methods. A cohort descriptive study was conducted at the Ural Research Institute for Maternal and Child Health in 2024–2025. Whole-exome sequencing (WES) results fr...

E. Kudryavtseva, T. B. Tretyakova, S. Y. Zakharova et al. · 0 citations

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