Pubblicazioni

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Radio, FRANCESCA CLEMENTINA; Digilio, Maria Cristina; Capolino, Rossella; Dentici, MARIA LISA; Unolt, Marta; Alesi, Viola; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Whitman, M. C.; Andrews, C.; Chan, W. -M.; Tischfield, M. A.; Stasheff, S. F.; Brancati, F.; Ortiz-Gonzalez, X.; Nuovo, S.; Garaci, F.; Mackinnon, S. E.; Hunter, D. G.; Grant, P. E.; Engle, E. C.