• Source: Scopus
1977 …2020

Research output per year

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Personal profile

Research interests

My current clinical research interests include clinical trials for new therapies for phenylketonuria (PKU) and Down syndrome. I am also interested in identification and delineation of genetic syndromes. I am involved with diagnosis and management of inborn errors of metabolism, birth defects, malformation syndromes, chromosomal disorders, Marfan syndrome and other connective tissue disorders.

Areas of Clinical Interest

medical genetics, genetic disease, genetic counseling, inherited disorders, inborn errors of metabolism, phenylketonuria (PKU), birth defects, malformation syndromes, chromosomal disorders, metabolic disorders,Marfan syndrome, connective tissue disorders, overgrowth disorders, craniofacial disorders, pediatric pathology

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