– Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
– Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
– Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Más de la secuenciación en pesquisa neonatal y diagnóstico clínico
Filed under Diagnóstico, Neurogenética, Neurología by on . 
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