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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Genome sequencing

4 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 Editoriali
Accesso libero
La Genetica democratica

Marchetti F.

2022/5 — pag. 279-280 — DOI

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) Medical ethics (46) Genetic Testing (43) Etica medica (41) Rare Diseases (40) Newborn screening (24) Genetic Diseases, Inborn (22) Malattie rare (21) Enzyme Replacement Therapy (20) Gene Therapy (19) Informed Consent (19) Bioethics (18) Preventive Medicine (18) Terapia genica (15) Terapia enzimatica sostitutiva (14) High-Throughput Nucleotide Sequencing (14) Exome Sequencing (11) Pharmacogenetics (10)