• Source: Scopus
20142021

Research activity per year

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Personal profile

Research interests

I am a medical genetics. My clinical and research interests are the following:

- Congenital malformation syndromes

- Neurodevelopmental and neurodegenerative disorders

- Whole Exome Sequencing and Whole Genome Sequencing

Areas of Clinical Interest

Congenital malformation syndromes, genetic evaluation of patients with developmental delay, intellectual disability, neurodegenerative diseases, whole exome sequencing, chromosomal microarray analysis, inborn metabolic disorders.

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