Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders.
Wang H et al.
Frontiers in Neurology, 2023
37056358 (PubMed )
Supplement: Table_1.XLSX › 54_canonical
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