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Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103(12):1003-1010.
. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study. J Rheumatol 2016;43(6):1093-100.
. 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 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.
. The clinical interpretation and significance of electronic fetal heart rate patterns 2 h before delivery: an institutional observational study. Arch Gynecol Obstet 2012;286(5):1153-9.
. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol 2016;9(1):e003121.
. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol 2016;9(1):e003121.
. 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.
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