Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
S Bahtia et al, EJHG, April 11, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024 3
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby et al. NPJ Genom Med 2024 2 (1) 15
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