Risultati ricerca pubblicazioni

LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Morlino Silvia, Alesi Viola, Calì Federica, Lepri Francesca Romana, Secinaro Aurelio, Grammatico Paola, Novelli Antonio, Drago Fabrizio, Castori Marco, Baban Anwar

Familial aggregation of “apple peel” intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Digilio M. C., Magliozzi M., Di Pede A., Valfre L., Dentici M. L., Auriti C., Marino B., Novelli A., Dallapiccola B.

Congenital heart defects in molecularly proven Kabuki syndrome patients

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2017

Digilio Maria Cristina, Gnazzo Maria, Lepri Francesca, Dentici Maria Lisa, Pisaneschi Elisa, Baban Anwar, Passarelli Chiara, Capolino Rossella, Angioni Adriano, Novelli Antonio, Marino Bruno, Dallapiccola Bruno