Exome Sequencing

Screening genomici neonatali: opportunità e sfide etiche

De Curtis M.

2025/10 — pag. 643-645 — DOI

Neonatal screening is one of the most significant achievements in preventive medicine that enables the early detection and treatment of many rare metabolic and genetic disorders. The introduction of exome (WES) and genome (WGS) sequencing now offers ...

Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Zanus C, Musante L, Faletra F, Carrozzi M, Costa P.

2022/1 — pag. 33-40 — DOI

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) d...

Implementazione dell’analisi dell’esoma nella pratica clinica: uno studio di fattibilità

A. Aversano

2020/4 — pag. 94-94 — DOI

23%Esoma in urgenza: sogno o son desto?PFAPA in famigliaTimololoParacetamolo e rischio di asma: bufalaIndimenticabile(i)Palivizumab... chi era costui?General acceptance

2016/8 — pag. 487-488