Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Cauley ES et al.
Molecular Genetics & Genomic Medicine, 2020
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