Search Results - "De Nisco, E."
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High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis
Published in Journal of endocrinological investigation (01-06-2018)“…Background Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused…”
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Divergent Phenotype of Two Siblings Human Leukocyte Antigen Identical, Affected by Nonclassical and Classical Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency
Published in The journal of clinical endocrinology and metabolism (01-11-2006)“…Context: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders most often caused by enzyme 21-hydroxylase deficiency. Most mutations…”
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D-amino acids in milk as related to heat treatments and bacterial activity
Published in Journal of food science (01-03-1992)“…The occurrence in milk of free and bound D-amino acids was investigated by chiral phase GC and related to heat treatments and bacterial activity. Significant…”
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Toxicity of melanin-free ink of Sepia officinalis to transformed cell lines: identification of the active factor as tyrosinase
Published in Biochemical and biophysical research communications (22-08-2003)“…The melanin-free ink of the cephalopod Sepia officinalis is shown to contain a heat labile proteinaceous component toxic to a variety of cell lines, including…”
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S-waves profiles from noise cross correlation at small scale
Published in Engineering geology (11-05-2009)“…Cross correlations of ambient seismic noise recordings are studied to infer shear-wave velocities ( V S) profiles versus depth. Experiments are performed, over…”
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Synthesis of 4-Deoxy-l-(and d-)hexoses from Chiral Noncarbohydrate Building Blocks
Published in Journal of organic chemistry (15-10-2004)“…4-Deoxy-l-hexoses were synthesized starting from our previously reported reagent 1 and (R)-benzyl glycidyl ether, which led in few steps to a substituted…”
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