Congenital disorders: molecular diagnosis, screening and follow-up
Activity
RESEARCH FIELDS
- Congenital hypoacusia pathogenesis in newborns with medical-surgery complex diseases
- Auxological-hormonal-metabolic outcome in newborns with IUGR
- Molecular diagnosis of several endocrine hereditary disorders (Gs-alfa protein altered function - congenital hypothyroidism)
ONGOING PROJECTS
- Congenital hypoacusia screening in a Neonatal Unit with medical-surgery complex disorders: analysis of the risks’ factors
- Auxological-hormonal-metabolic follow-up of twins with discordant birth weight (IUGR)
- Molecular diagnosis of Gs-alfa protein-related diseases
Tag: HYPOACUSIA - IUGR - Gsα PROTEIN CONGENITAL HYPOTHYROIDISM