نتایج جستجو برای: genetic defect
تعداد نتایج: 700108 فیلتر نتایج به سال:
Von Willebrand disease (VWD), the most common genetic bleeding disorder, is characterised by a quantitative or qualitative defect of von Willebrand factor (VWF). Patients with VWD suffer from mucocutaneous bleeding, of severity usually proportional to the degree of VWF defect. In particular, gastrointestinal bleeding associated with angiodysplasia is often a severe symptom of difficult manageme...
fixed myocardial defects in both stress and rest images, could be artifactual as a result of soft tissue attenuation. to increase specificity and identify the false positive results, we used gated technique to evaluate the wall motion and wall thickening as an index to differentiate real ischemic lesions from artifactual defects. 93 patients were studied. in 46 patients (48.8%) fixed perfusion ...
Background: Neural Tube Defect (NTD) characterized by failure of neural tube to close properly be the second most common born defect after congenital heart disease. The most prevalent forms of NTD are Anencephaly and Spinal-bifida. Many factors are involved in this anomaly. New researches suggest environmental factors like radiation, hyperthermia, Vitamin A and acid folic deficiency, anti epile...
Software defects detection is one of the most important challenges of software development and it is the most prohibitive process in software development. The early detection of fault-prone modules helps software project managers to allocate the limited cost, time, and effort of developers for testing the defect-prone modules more intensively. In this paper, according to the importance of soft...
by employing the theoretical method based on tight-binding, we study electronic band structure of single-wall carbon nanotube (cnt) superlattices, which the system is the made of the junction between the zigzag and armchair carbon nanotubes. exactly at the place of connection, it is appeared the pentagon–heptagon pairs as topological defect in carbon hexagonal network. the calculations are base...
background: there is some evidence indicating improvement in myocardial performance after atrial septal defect closure, either device closure or surgical, but ventricular dyssynchrony has not been evaluated before and after surgical closure. the aim of this study was to evaluate ventricular mechanical dyssynchrony in patients with atrial septal defect before and after surgical closure. methods:...
background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...
Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...
The DNA structure checkpoint protein Rad26ATRIP is also required for an interphase microtubule damage response. This checkpoint delays spindle pole body separation and entry into mitosis following treatment of cells with microtubule poisons. This checkpoint requires cytoplasmic Rad26ATRIP, which is compromised by the rad26:4A allele that inhibits cytoplasmic accum...
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