Search Results - "FATTORE, S"
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A pilot study of factors associated with glycaemic control in adults with Type 1 diabetes mellitus on insulin pump therapy
Published in Diabetic medicine (01-02-2016)“…Aims To identify the knowledge and management factors associated with glycaemic control among adults with Type 1 diabetes mellitus treated with insulin pump…”
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Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients
Published in American journal of hematology (01-02-1995)“…In order to verify the genetic factors influencing the clinical expression of beta-thalassemia we have studied 292 Italian patients, 165 with thalassemia…”
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3
First-trimester fetal screening of cystic fibrosis in low-risk population
Published in The Lancet (British edition) (04-09-1993)Get more information
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A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient
Published in Human genetics (01-11-1992)“…We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote…”
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Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype
Published in British journal of haematology (01-11-1994)“…This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent…”
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A homozygous missense arginine to histidine substitution at position 482 of the ?-galactosidase in an Italian infantile GM1-gangliosidosis patient
Published in Human genetics (01-11-1992)Get full text
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7
Temperature-programmed capillary electrophoresis for the analysis of high-melting point mutants in thalassemias
Published in Electrophoresis (1997)“…The behavior of different sieving polymers for unambiguous determination of point mutations in genomic DNA, based on electrophoresis in thin capillaries, is…”
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