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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
. . Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Teaching pain recognition through art: the Ramsay-Caravaggio sedation scale. Ital J Pediatr 2018;44(1):20.
. Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study. Arthritis Rheum 2011;63(10):3142-52.
. Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study. Arthritis Rheum 2011;63(10):3142-52.
. Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immunol 2010;125(4):943-946.e1.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
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