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and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol 2017;28(3):981-994.
. Anti-α-enolase Antibodies in Serum from Pediatric Patients Affected by Inflammatory Diseases: Diagnostic and Pathogenetic Insights. Int J Rheumatol 2011;2011:870214.
. Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. PLoS One 2015;10(1):e0116483.
. 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.
. Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study. JAMA Pediatr 2017;171(6):573-592.
. Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study. JAMA Pediatr 2017;171(6):573-592.
. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet 2016;17(1):35.
. Coeliac disease diagnosis: ESPGHAN 1990 criteria or need for a change? Results of a questionnaire. J Pediatr Gastroenterol Nutr 2012;54(1):15-9.
. Consensus Conference on Clinical Management of pediatric Atopic Dermatitis. Ital J Pediatr 2016;42:26.
. CYP3A genes and the association between prenatal methylmercury exposure and neurodevelopment. Environ Int 2017;105:34-42.
. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829.
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