Roberta Onesimo

A multicentre retrospective study of 66 <scp>I</scp>talian children with food protein‐induced enterocolitis syndrome: different management for different phenotypes

Stefano Miceli Sopo, Valentina Giorgio, I. Dello Iacono et al. · Clinical & Experimental Allergy · 2012 · 229 citations

Medicine, Child Health, Pediatrics +12

Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions

Roberta Onesimo, Daniela Orteschi, Maria Scalzone et al. · American Journal of Medical Genetics Part A · 2012 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Catherine Rodger, Elisabetta Flex, Rachel Allison et al. · The American Journal of Human Genetics · 2020 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Responsiveness to intravenous immunoglobulins and occurrence of coronary artery abnormalities in a single-center cohort of Italian patients with Kawasaki syndrome

Donato Rigante, Piero Valentini, Daniela Rizzo et al. · Rheumatology International · 2010 · 64 citations · Full text

Medicine, Cardiology, Internal Medicine +14

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17