Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Sequenziamento genomico

3 articoli — 2018-2025

RI Articolo speciale
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 ...

RI Aggiornamento
Medicina di precisione: miti e realtà

Amoroso S, Baldo F, Bettini L, Bossini B, Nucera S

2021/1 — pag. 18-24 — DOI

Precision medicine is an emerging framework to maximise therapeutic benefit by modifying individual patients’ treatment considering the variations in their demographic, genomic and environmental factors. The present review describes recent advances, ...

RI Il commento
Le sfide della Medicina contemporanea

S. Maitz, A. Biondi

2018/10 — pag. 635

Argomenti correlati
Neonatal screening (109) Ethics, Medical (82) Screening neonatale (49) Genetic Testing (43) Rare Diseases (40) Genetic Diseases, Inborn (22) Malattie rare (21) Enzyme Replacement Therapy (20) Informed Consent (19) Gene Therapy (19) Preventive Medicine (18) Terapia genica (15) Terapia enzimatica sostitutiva (14) High-Throughput Nucleotide Sequencing (14) Exome Sequencing (11) Consenso informato (10) Pharmacogenetics (10) Rare genetic diseases (8) Precision Medicine (7) Next-Generation Sequencing (7)