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A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010;31(2):98-100..
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4..
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7..
HLA-G 14 bp deletion/insertion polymorphism in celiac disease. Am J Gastroenterol 2011;106(1):139-44..
A multicenter, case-control study on risk factors for antepartum stillbirth. J Matern Fetal Neonatal Med 2011;24(3):407-10..
Insights from Cardiac Mechanics after Three Decades from Successfully Repaired Aortic Coarctation. Congenit Heart Dis 2015;.
Are aortic coarctation and rheumatoid arthritis different models of aortic stiffness? Data from an echocardiographic study. Cardiovasc Ultrasound 2018;16(1):9..
Allogeneic hematopoietic stem cell transplantation for Philadelphia-positive acute lymphoblastic leukemia in children and adolescents: a retrospective multicenter study of the Italian Association of Pediatric Hematology and Oncology (AIEOP). Biol Blood Marrow Transplant 2012;18(6):852-60..
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288..
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 2011;32(4):256-8..
A red baby should not be taken too lightly. Acta Paediatr 2012;101(12):e573-7..
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7..