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Five new OTOF gene mutations and auditory neuropathy. Int J Pediatr Otorhinolaryngol 2010;74(5):494-8.
. Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. Gene 2012;499(2):262-5.
. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet 2011;19(4):422-31.
. Pain Intensity and Risk of Bone Fracture in Children With Minor Extremity Injuries. Pediatr Emerg Care 2018;
. Recurrent fever and fitful abdominal pain in a child. Gastroenterology 2012;143(2):e11-2.
. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children. BMJ Open 2016;6(6):e011173.
. A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?. Ital J Pediatr 2018;44(1):43.
. DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases. Clinics (Sao Paulo) 2012;67(4):395-8.
. The effect of clodronate on a mevalonate kinase deficiency cellular model. Inflamm Res 2012;61(12):1363-7.
. Specific protein profile in cerebrospinal fluid from HIV-1-positive cART-treated patients affected by neurological disorders. J Neurovirol 2012;18(5):416-22.
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