Mitchel Pariani

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

European Journal of Human Genetics · 2013 · 89 citations

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

Case report · European Journal of Medical Genetics · 2009 · First of 4 authors · Corresponding · 82 citations