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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..
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7..
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9..
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4..
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. Dermatology 2012;225(4):294-7..
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80..
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288..
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..
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..
A multicenter, case-control study on risk factors for antepartum stillbirth. J Matern Fetal Neonatal Med 2011;24(3):407-10..
HLA-G 14 bp deletion/insertion polymorphism in celiac disease. Am J Gastroenterol 2011;106(1):139-44..