Claudia Cesaretti

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Splenectomy and thrombosis: the case of thalassemia intermedia

Alì Taher, Khaled M. Musallam, Mehran Karimi et al. · Journal of Thrombosis and Haemostasis · 2010 · 154 citations

Thrombosis, Thalassemia Intermedia, Venous Thrombosis +6

Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* study

Alberto Roghi, Maria Domenica Cappellini, John C. Wood et al. · Annals of Hematology · 2009 · 65 citations · Full text

Anemia, Heart Failure, Thalassemia Intermedia +10

Levels of growth differentiation factor-15 are high and correlate with clinical severity in transfusion-independent patients with β thalassemia intermedia

Khaled M. Musallam, Alì Taher, Lorena Duca et al. · Blood Cells Molecules and Diseases · 2011 · 61 citations

Growth Differentiation Factor-15, Human Growth, Transfusion Medicine +5

Oxidative stress in Systemic Sclerosis

Gabriele Simonini, Marco Matucci‐Cerinic, Sergio Generini et al. · 1999 · 58 citations

Inflammation, Systemic Scleroderma, Medicine +8