Risultati ricerca pubblicazioni

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2020

Pascolini G., Agolini E., Fleischer N., Gulotta E., Cesario C., D', Elia G., Novelli A., Majore S., Grammatico P.

KBG syndrome: common and uncommon clinical features based on 31 new patients

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2020

Gnazzo M., Lepri F. R., Dentici M. L., Capolino R., Pisaneschi E., Agolini E., Rinelli M., Alesi V., Versacci P., Genovese S., Cesario C., Sinibaldi L., Baban A., Bartuli A., Marino B., Cappa M., Dallapiccola B., Novelli A., Digilio M. C.

Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2020

Pascolini G, Gaudioso F, Fadda Mt, Laino L, Ferraris A, , , Grammatico P.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2020

Baban A., Olivini N., Cantarutti N., Cali F., Vitello C., Valentini D., Adorisio R., Calcagni G., Alesi V., Di Mambro C., Villani A., Dallapiccola B., Digilio M. C., Marino B., Carotti A., Drago F.