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Soluble TRAIL is elevated in recurrent miscarriage and inhibits the in vitro adhesion and migration of HTR8 trophoblastic cells. Hum Reprod 2012;27(10):2941-7.
. Soluble TRAIL is elevated in recurrent miscarriage and inhibits the in vitro adhesion and migration of HTR8 trophoblastic cells. Hum Reprod 2012;27(10):2941-7.
. Stem cells in severe infantile spinal muscular atrophy (SMA1). Neuromuscul Disord 2012;22(11):1032-4.
. Stem cells in severe infantile spinal muscular atrophy (SMA1). Neuromuscul Disord 2012;22(11):1032-4.
. Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. Mol Syndromol 2012;3(1):30-33.
. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.
. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.
. Human colostrum and breast milk contain high levels of TNF-related apoptosis-inducing ligand (TRAIL). J Hum Lact 2013;29(1):23-5.
. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
. Presence of CTAK/CCL27, MCP-3/CCL7 and LIF in human colostrum and breast milk. Cytokine 2013;61(1):26-8.
. Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking. PLoS One 2014;9(3):e92065.
. 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.
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