Elisa Adele Colombo

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo et al. · The American Journal of Human Genetics · 2009 · 145 citations · Full text

Molecular Diagnostic Techniques, Clericuzio-type Poikiloderma, Medicine +8

Psychosocial aspects and psychiatric disorders in young adult with thalassemia major

Giuseppina Messina, Elisa Adele Colombo, Elena Cassinerio et al. · Internal and Emergency Medicine · 2008 · 96 citations

Psychiatric Disease, Psychiatry, Psychiatric Disorders +8

Epidemiology of haemolytic uremic syndrome in children. Data from the North Italian HUS network

Gianluigi Ardissino, Stefania Salardi, Elisa Adele Colombo et al. · European Journal of Pediatrics · 2015 · 73 citations

Hemodialysis, Urology, Haemolytic Uremic Syndrome +9

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri et al. · Orphanet Journal of Rare Diseases · 2012 · 49 citations · Full text

Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the <i>C16orf57</i> gene: Delineation of the phenotype

Daniela Concolino, Gaia Roversi, G Muzzi et al. · American Journal of Medical Genetics Part A · 2010 · 36 citations