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...

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