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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Whole Exome Sequencing

2 articoli — 2021-2021

RI Aggiornamento
La tecnologia genetica: ciò che ogni pediatra dovrebbe sapere

Mariani M, Cianci P, Cereda A, Maitz A, Giagnacovo M, Modena P, Iascone M, Selicorni A

2021/5 — pag. 291-301 — DOI

Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also...

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, ...

Argomenti correlati
Pediatrics (398) Genetic Testing (43) Genetic Diseases, Inborn (23) Gene Therapy (21) High-Throughput Nucleotide Sequencing (14) Pharmacogenetics (10) Precision Medicine (7) Molecular Targeted Therapy (7) Next-generation sequencing (7) Genomics (7) Next generation sequencing (6) Genetica molecolare (5) Medicina di precisione (5) Molecular genetics (5) Sequenziamento del genoma (4) Fattori ambientali (4) Environmental Factors (4) Genome Sequencing (4) Genetic Factors (3) Proteomics (3)