Search Results - "Siala, H"
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Prenatal diagnosis of hemoglobinopathies in Tunisia: an 18 years of experience
Published in International journal of laboratory hematology (01-06-2016)“…Summary Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%. Objective The aim of this study was to…”
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Association between clinical expression and molecular heterogeneity in β-thalassemia Tunisian patients
Published in Molecular biology reports (01-11-2013)“…Beta-thalassemia is the most frequent hereditary blood disorder in Tunisia because of its geographic localization and history. This pathology is characterized…”
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3
Glucose-6-phosphate dehydrogenase deficiency in Tunisia: molecular data and phenotype-genotype association
Published in Molecular biology reports (01-02-2013)“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect. In this study, we aimed to perform a molecular investigation of…”
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Prenatal diagnosis of cystic fibrosis: 10-years experience
Published in Pathologie biologie (Paris) (01-06-2015)“…We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40…”
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Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population
Published in Pathologie biologie (Paris) (01-09-2015)“…Determining the frequency of M470V polymorphism in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of M470V polymorphism in cystic…”
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Association of TGFB1 −509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study
Published in Pathologie biologie (Paris) (01-09-2015)“…In this work, we are interested to study the implication of −509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in…”
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α-Thalassaemia in Tunisia: some epidemiological and molecular data
Published in Journal of genetics (01-12-2008)“…Unlike the other haemoglobinopathies, few researches have been published concerning α-thalassaemia in Tunisia. The aim of the present work is to acquire…”
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8
A novel 22bp deletion in a Tunisian phenylketonuria family
Published in Pathologie biologie (Paris) (01-12-2012)“…Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the…”
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A Tunisian neonatal case of co-inheritance of G6PD deficiency and HBC presenting as severe jaundice and hemolytic anemia
Published in Clinica chimica acta (01-06-2019)Get full text
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Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation
Published in Acta physiologica Hungarica (01-03-2015)“…The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular…”
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Analysis of IVS8 CFTR gene polymorphism in asthmatic children in a Tunisian population
Published in Revue française d'allergologie (2009) (01-09-2019)“…Asthma is a multifactorial disease of genetic origin; its clinical expression depends largely on acquired factors, often related to the environment. It is…”
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Novel frameshift mutation in Tunisian cystic fibrosis patient
Published in Clinical biochemistry (01-05-2011)Get full text
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Association between clinical expression and molecular heterogeneity in [beta]-thalassemia Tunisian patients
Published in Molecular biology reports (01-11-2013)“…Beta-thalassemia is the most frequent hereditary blood disorder in Tunisia because of its geographic localization and history. This pathology is characterized…”
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14
[alpha]-Thalassaemia in Tunisia: some epidemiological and molecular data
Published in Journal of genetics (01-12-2008)“…Unlike the other haemoglobinopathies, few researches have been published concerning α-thalassaemia in Tunisia. The aim of the present work is to acquire…”
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15
The impact of religious affiliation on trust in the context of electronic commerce
Published in Interacting with computers (01-02-2004)“…There is currently a growing literature on the role that trust plays in encouraging consumers to engage in e-commerce transactions. Various models have been…”
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