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Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Mutat Res 2015;781:32-6.
. Synchrotron X-ray microscopy reveals early calcium and iron interaction with crocidolite fibers in the lung of exposed mice. Toxicol Lett 2016;241:111-20.
. Surgery for distal hypospadias: what about the catheter?. Pediatr Med Chir 2017;39(3):145.
. Surgery for distal hypospadias: what about the catheter?. Pediatr Med Chir 2017;39(3):145.
. Successful induction of oral tolerance in Netherton syndrome. Allergol Immunopathol (Madr) 2012;40(5):316-7.
. [Strategies for cardiovascular prevention in children]. G Ital Cardiol (Rome) 2010;11(5 Suppl 3):87S-89S.
. Splenomegaly as presentation of a wandering spleen. J Pediatr 2010;157(5):859.e1.
. 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.
. Soluble TRAIL is present at high concentrations in seminal plasma and promotes spermatozoa survival. Reproduction 2014;148(2):191-8.
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