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De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.
. Delayed diagnosis of glycogen storage disease type III. J Pediatr Gastroenterol Nutr 2012;54(1):122-4.
. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
. Endothelial cells obtained from patients affected by chronic venous disease exhibit a pro-inflammatory phenotype. PLoS One 2012;7(6):e39543.
. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.
. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.
. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.
. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.
. Extra-large letter spacing improves reading in dyslexia. Proc Natl Acad Sci U S A 2012;109(28):11455-9.
. Febrile urinary tract infections in young children: recommendations for the diagnosis, treatment and follow-up. Acta Paediatr 2012;101(5):451-7.
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