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Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. Hear Res 2015;320:18-23.
. 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.
. C1q as a unique player in angiogenesis with therapeutic implication in wound healing. Proc Natl Acad Sci U S A 2014;111(11):4209-14.
. Childhood high-risk acute lymphoblastic leukemia in first remission: results after chemotherapy or transplant from the AIEOP ALL 2000 study. Blood 2014;123(10):1470-8.
. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
. Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014;77(1-4):175-82.
. Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014;77(1-4):175-82.
. DC-SIGN polymorphisms are associated to type 1 diabetes mellitus. Immunobiology 2014;219(11):859-65.
. Diabetes in pregnancy: timing and mode of delivery. Curr Diab Rep 2014;14(7):506.
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