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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Telomere

Cells Cellular Structures Intracellular Space Cell Nucleus Cell Nucleus Structures Intranuclear Space

2 articoli — 2006-2026

RI Casi indimenticabili
Sapere riconoscere la discheratosi congenita

Ballaben A.

2026/1 — pag. 54-56 — DOI

Ginevra was examined at age 14 for neurological and inflammatory symptoms (paresthesia, muscle weakness and xerostomia). The clinical picture remained unclear until the discovery of severe onychodystrophy, which had been hidden for years by nail p...

RI Aggiornamento
Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...

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Intellectual Disability (67) Prenatal Diagnosis (37) Genetic Diseases, Inborn (22) Genetic Counseling (19) Nail Diseases (15) Paresthesia (15) Malattie genetiche (14) Genetic diseases (14) Muscle Weakness (13) Genomic Imprinting (11) Uniparental Disomy (9) Consulenza genetica (8) Chromosome Aberrations (8) Genetic syndromes (6) Imprinting genomico (5) Chromosomal abnormalities (5) Clinical Genetics (4) Trinucleotide Repeat Expansion (4) Anomalie cromosomiche (4) In Situ Hybridization, Fluorescence (4)