Pubblicazioni

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

2021 - ANNALS OF HUMAN GENETICS
Pugnaloni, Flaminia; Versacci, Paolo; Marino Taussig De Bodonia, Bruno; Cristina Digilio, Maria

External hydrocephalus as a prenatal feature of Noonan Syndrome

2021 - ANNALS OF HUMAN GENETICS
Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A.

Bight of Benin: a Maternal Perspective of Four Beninese Populations and their Genetic Implications on the American Populations of African Ancestry

2017 - ANNALS OF HUMAN GENETICS
Primativo, G; Ottoni, C; Biondi, G; Serafino, S; Martinez-Labarga, C; Larmuseau, Mhd; Scardi, M; Decorte, R; Rickards, O

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

2015 - ANNALS OF HUMAN GENETICS
Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto

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