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Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol 2011;139(1):6-11.
. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol 2011;139(1):6-11.
. Clinical significance of hyper-IgA in a paediatric laboratory series. Arch Dis Child 2014;99(12):1114-6.
. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet 2016;17(1):35.
. 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.
. Coeliac disease in the ERA of the new ESPGHAN and BSPGHAN guidelines: a prospective cohort study. Arch Dis Child 2015;
. Combined circulating epigenetic markers to improve mesothelin performance in the diagnosis of malignant mesothelioma. Lung Cancer 2015;
. Combined use of AFM and soft X-ray microscopy to reveal fibres' internalization in mesothelial cells. Analyst 2017;142(11):1982-1992.
. Combined use of AFM and soft X-ray microscopy to reveal fibres' internalization in mesothelial cells. Analyst 2017;142(11):1982-1992.
. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
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