Risultati ricerca pubblicazioni

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

pubblicato su: HUMAN MUTATION - 2020

Piceci-Sparascio Francesca, Palencia-Campos Adrian, Soto-Bielicka Patricia, Danzi Angela, Guida Valentina, Rosati Jessica, Caparros-Martin Jose Antonio, Torrente Isabella, Cecilia D'Asdia Maria, Versacci Paolo, Briuglia Silvana, Lapunzina Pablo, Tartaglia Marco, Marino Bruno, Digilio Maria Cristina, Ruiz-Perez Victor L, De Luca Alessandro

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

pubblicato su: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE - 2018

Versacci Paolo, Pugnaloni Flaminia, Digilio Maria Cristina, Putotto Carolina, Unolt Marta, Calcagni Giulio, Baban Anwar, Marino Bruno

Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome

pubblicato su: ANNALS OF HUMAN GENETICS - 2021

Pugnaloni Flaminia, Versacci Paolo, Marino Taussig De Bodonia Bruno, Cristina Digilio Maria