نتایج جستجو برای: mutation detection method
تعداد نتایج: 2333870 فیلتر نتایج به سال:
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
Detection of gene mutation is an activity that can provide contribution in the medical field. Detection of mutated gene is needed to avoid the diseases caused by them such as cancer. The detection of gene mutations can be performed by utilizing computer-based system. Group Decision Support System (GDSS) is a computer-based system that can be utilized in detecting human gene mutations that cause...
Introduction: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA) enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it an...
Removing faults in the software of embedded systems, after deployment, is at least expensive because of the required actions like calling back cars to workshops in order to perform a software update. Therefore verification and validation techniques are especially important in the embedded system domain. Mutation testing is a method for evaluating test suites of programs via injecting faults and...
Abstract With the increase of scale, function and complexity power grid dispatching automatic system, difficulty system operation maintenance increases significantly. This paper presents a metric mutation anomaly detection method based on combination machine learning statistical algorithm. First, data is smoothed by algorithm, difference between value real calculated. Then, was used to detect e...
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...
BACKGROUND Epidermal growth factor receptor (EGFR)-activating mutations are major determinants in predicting the tumor response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC). Noninvasive test for the detection of EGFR mutations is required, especially in NSCLC patients from whom tissue is not available. In this study, we assessed the feasibility of detection of EGFR m...
Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...
Presented study included human blood from healthy people and patients with BReast CAncer gene (BRCA) mutation. We used Raman spectroscopy for BRCA mutation detection the bioanalytical characterization of pathologically changed samples. The aim this is to evaluate biomarkers distinguish samples demonstrated that a powerful technique between characterize biochemical composition applied partial le...
B ecker muscular dystrophy (BMD) is an X linked mutation of the dystrophin gene characterised by skeletal muscle dystrophy and progressive heart failure which frequently leads to a fatal outcome. Cardiac involvement is not accurately predicted by gene mutation and may occur in patients without muscle weakness. Consequently, systematic cardiac examinations are required. Tissue Doppler echocardio...
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