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 Genome Sequencing

Investigative Techniques Genetic Techniques Sequence Analysis Sequence Analysis, DNA Whole Genome Sequencing

4 articoli — 2021-2026

EL I Poster degli specializzandi
Deficit di sintesi degli acidi biliari tipo 2: un caso di colestasi in un lattante con GT basse

Danesi R, Zuccoli C, Pelucchi M, Stinco M, D'Antiga L.

2026/26 — pag. 193-194 — DOI

The paper reports the case of a two-month-old infant with persistent jaundice associated with acute cholestasis, severe cytolysis and coagulopathy. After ruling out the most common causes of neonatal cholestasis (such as biliary atresia and Alagille ...

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
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...

Argomenti correlati
Pediatrics (397) Neonatal Screening (109) Ethics, Medical (82) Jaundice, Neonatal (51) Screening neonatale (49) Medical ethics (46) Cholestasis (45) Genetic Testing (43) Etica medica (41) Rare diseases (40) Newborn screening (24) Genetic Diseases, Inborn (22) Malattie rare (21) Informed Consent (19) Bioethics (18) Preventive Medicine (18) High-Throughput Nucleotide Sequencing (14) Exome Sequencing (11) Bile Acids and Salts (11) Consenso informato (10)