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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

Last update: 21/03/2022 11:41
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