Elga Fabia Belligni

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, L Cianetti, Marcello Niceta et al. · The American Journal of Human Genetics · 2012 · 99 citations · Full text

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 98 citations · Full text

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Francesca Novara, Franco Stanzial, Elena Rossi et al. · American Journal of Medical Genetics Part A · 2014 · 55 citations

Short Stature, Genetics, Pathology +18