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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673-80.
. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.
. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.
. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 2011;43(3):259-63.
. Neonatal necrotizing tracheobronchitis. J Pediatr 2011;159(4):699-699.e1.
. 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.
. Non-invasive assessment of hemispheric language dominance by optical topography during a brief passive listening test: a pilot study. Med Sci Monit 2011;17(12):CR692-7.
. Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. J Immunol 2011;186(8):4946-58.
. A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2011;49(1):49-54.
. A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2011;49(1):49-54.
. [Proteomic applications in gynecology-obstetrics]. Minerva Ginecol 2011;63(1):39-46.
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