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Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency. J Allergy Clin Immunol Pract 2018;6(6):2165-2167.
. Inhibition of mesenchymal stromal cells by pre-activated lymphocytes and their culture media. Stem Cell Res Ther 2014;5(1):3.
. The incidence rate and prevalence of pediatric type 1 diabetes mellitus (age 0-18) in the Italian region Friuli Venezia Giulia: population-based estimates through the analysis of health administrative databases. Acta Diabetol 2016;53(4):629-35.
. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun 2018;9(1):2904.
. Tag-single nucleotide polymorphism-based human leukocyte antigen genotyping in celiac disease patients from northeastern Italy. Hum Immunol 2011;72(6):499-502.
. Sensorineural hearing loss in very low birth weight infants with histological chorioamnionitis. J Matern Fetal Neonatal Med 2015;28(8):895-9.
. Presentation of acute suppurative parotitis in a newborn with incessant crying. Arch Dis Child Fetal Neonatal Ed 2017;102(2):F125.
. Long-term follow-up in children with benign convulsions associated with gastroenteritis. Eur J Paediatr Neurol 2014;18(5):572-7.
. R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. Clin Genet 2015;88(1):85-9.
. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Ear Hear 2016;37(1):112-20.
. Exenatide in type 2 diabetes. Lancet 2010;376(9746):1052-3; author reply 1053.
. A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur J Med Genet 2010;53(5):256-60.
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