Pubblicazioni

First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): Review of the literature

2018 - CLINICAL DYSMORPHOLOGY

Nobili, V; Mosca, A; Francalanci, P; D'Ercole, MARIA CRISTINA; Dallapiccola, B.

Retinal pigment epitheliumâphotoreceptor layer alterations in a patient with SturgeâWeber syndrome with diffuse choroidal hemangioma

2017 - OPHTHALMIC GENETICS

Abdolrahimzadeh, Solmaz; Parisi, Francesco; Mantelli, Flavio; Perdicchi, Andrea; Scuderi, Gianluca

Ocular alterations in a rare case of segmental neurofibromatosis type 1 with a non-classified mutational variant of the NF-1 gene

2016 - OPHTHALMIC GENETICS

Abdolrahimzadeh, Solmaz; Piraino, Domenica Carmen; Plateroti, Rocco; Scuderi, Gianluca; Recupero, Santi Maria

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Radio, FRANCESCA CLEMENTINA; Digilio, Maria Cristina; Capolino, Rossella; Dentici, MARIA LISA; Unolt, Marta; Alesi, Viola; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno