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.

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

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.

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 diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2018

Unolt Marta, Versacci Paolo, Anaclerio Silvia, Lambiase Caterina, Calcagni Giulio, Trezzi Matteo, Carotti Adriano, Crowley Terrence Blaine, Zackai Elaine H., Goldmuntz Elizabeth, Gaynor James William, Digilio Maria Cristina, Mcdonald-Mcginn Donna M., Marino Bruno

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