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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Thu Nov 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Total Quality Management and Its Role in the Development of Financial Performance "Reality and Obstacles" (Case Study on Diyala State Company)
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           This research aims to identify and measure the role of TQM in the process of developing  the financial  performance of  Diyala State Company and show the reality and obstacles, after applying the company's management to the requirements of ISO 9001: 2008 and compare it with its performance before applying this standard, The researcher measured the financial performance by conducting financial analysis of the financial statements and conducting a number of interviews at the company's headquarters, Diyala State Company (one of the Iraqi Ministry of Industry and Minerals formations) was sele

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Crossref
Publication Date
Wed Jun 30 2010
Journal Name
Al-kindy College Medical Journal
Human Leukocyte Antigens class II influence the expression of Glutamic Acid Decarboxylase auto antibodies in Type Diabetic children and their Siblings
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Background: The immunogenetic predisposition
may be considered as an important factor for the
development of Type 1 Diabetes Mellitus (T1DM)
in association with the HLA antigens.
Objective:This study was designed to investigate
the role of HLA-class II antigens in the etiology of
type T1DM and in prediction of this disease in
siblings, and its effect on expression of glutamic
acid decarboxylase autoantibodies (GADA).
methods:Sixty children who were newly diagnosed
type 1 diabetes (diagnosed less than five months)
were selected. Their age ranged from 3-17 years.
Another 50 healthy siblings were available for this
study, their ages range from 3-16 years. Eighty
apparently healthy control subjects,

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Publication Date
Wed Oct 01 2014
Journal Name
Al–bahith Al–a'alami
Student Survey in Public Relations Services, Registration and Counseling, A Case Study of Petra University for the academic year 2013/2014.
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The research discusses the public relations services, registration, and academic advising at Petra University for the years 2013-2014. Using a field study and surveying Petra University students to be informed about the services and to cover the tiny details that have to do with public relations role in the university as a specialized department interested in serving public and gaining their trust in terms of what is legal and possible to build and enhance the university reputation. And gain mutual trust between the university and its publics.
The public relations is consi

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Crossref
Publication Date
Tue Oct 25 2022
Journal Name
Aip Conference Proceedings
The structural properties of mawsoniteCu6Fe2 S8Sn[CFTS] thin films effected by violet laser irradiation deposited via semi-computerized spray pyrolysis technique
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Publication Date
Thu Jan 16 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The Complementary Relationship between Target Costing and Value Chain In The Public Corporations Of The Jordanian Industrial Sector: An Empirical Study
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This research aims to study the target costing and value chain with their complimentary relationship in reducing product costs, meeting the needs of customer, and achieving strategic competitive advantage for manufacturing corporations in response to face international competition, technological development and continuous changing expectations of customers.    No doubt, the target costing and value chain both currently occupy a great deal of the attention of managers and accountants at the manufacturing corporations due to the significance to insure their continuity, growth and development. This significance has been the main motive to examine the role of target costing and value chain in a sample of public corporations of the

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Publication Date
Mon Aug 11 2025
Journal Name
Journal Of Physical Education
Predicting Grip Angle Using Some Kinematical Variables Of Leaving and Flight In Parallel Bar In Men's Gymnastics (Qatar 2016)
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Publication Date
Wed Jan 01 2020
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
Estimating the reliability function of the asymmetrical hybrid parallel-series system: Applied study at the state company for vegetable oils industry
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The research studied and analyzed the hybrid parallel-series systems of asymmetrical components by applying different experiments of simulations used to estimate the reliability function of those systems through the use of the maximum likelihood method as well as the Bayes standard method via both symmetrical and asymmetrical loss functions following Rayleigh distribution and Informative Prior distribution. The simulation experiments included different sizes of samples and default parameters which were then compared with one another depending on Square Error averages. Following that was the application of Bayes standard method by the Entropy Loss function that proved successful throughout the experimental side in finding the reliability fun

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Scopus
Publication Date
Fri Jun 28 2019
Journal Name
Journal Of The College Of Education For Women
Creative Formation in the Poetry of Thafer Bin Qasim Al-Haddad (529 A.H) (Creative Ingenuity as Model): خلود هاشم جوحي الوائلي
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Through research and research in the creative composition in the poetry of Zafer-Alhaddad it turned out to be superior in its systems, especially that he chose a linguistic and verbal texture accompanied by a cultural dictionary full of creativity and beauty helped this culture arrangement reflects the poetically wonderful and beautiful custom led to the harmony of colors and bodies painted by the poet brush the creative artist evaluates the metaphorical and metaphorical relations that would explain the poets idea, most of which were inspired by the wonderful spirit of nature, its beautiful landscapes and bright colors, especially that we do not forget the beautiful colors and the aesthetic touch that created a fascinating musical intera

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Publication Date
Fri Jan 15 2021
Journal Name
Plant Archives
AN ECONOMIC STUDY TO MEASURE THE IMPACT OF THE MAIN VARIABLES ON RURAL POVERTY IN IRAQ FOR THE PERIOD 1990-2019
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Crossref
Publication Date
Wed Jul 02 2008
Journal Name
Iraqi Journal Of Science
Petrology, geochemistry and tectonic environment of the Shalair Metamorphhic Rock Group and Kater Rash Volcanic Group, Shalair Valley area, Northeastern Iraq
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