Ave Maria Baffico

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)

A. Ventura, G. Tonni, M. Baldi, 2014, Congenital anomalies.

p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia

A. Ventura, G. Tonni, M. Bonasoni, 2013, The journal of obstetrics and gynaecology research.

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

S. Gimelli, G. Gimelli, E. Merello, 2011, European journal of medical genetics.