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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
Sat Jan 01 2022
Journal Name
Geotechnical Engineering And Sustainable Construction Pp 545-555
Numerical Analysis of Historical Masonry Minaret Subjected to Wind Load
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Publication Date
Mon May 01 2017
Journal Name
2017 5th International Conference On Information And Communication Technology (icoic7)
Analysis of the number of ants in ant colony system algorithm
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Publication Date
Fri May 01 2015
Journal Name
2015 International Symposium On Mathematical Sciences And Computing Research (ismsc)
Analysis of significant dimensions of e-service quality in Malaysian universities
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Publication Date
Wed Mar 29 2023
Journal Name
Journal Of The College Of Education For Women
Geographical Analysis of Sanitation Workers in the Urban District of Kut
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Cleaning is one of the services provided by the state and its ad hoc institutions. Every developed country is clean due to the good planning and attention given to the staff of all municipalities and service institutions. Beside, the attention paid to this sector is considered one of the windows to maintain the states’ aesthetics. If janirtos stop disposing of all the discarded wastes, the result will be having big piles of waste, affecting accordingly the health and safety of its citizens and the aesthetics of the areas. The janitors and those responsible for them are tha staff that the state must take care of because of their importance to the state in general and to the province in particular. The importance of the research

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Publication Date
Mon Dec 15 2025
Journal Name
International Journal Online Of Humanities
Social Media Portrayals of War of Waters: A Critical Discourse Analysis
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Although war of waters has existed throughout history, it has gained increasing relevance in recent decades, particularly in regions where transboundary rivers are politically contested. One of the most critical and ongoing disputes is between Iraq and Turkey over the control on the Tigris and Euphrates rivers. The study seeks to achieve three primary objectives: investigating the types of transitivity processes most frequently used in the politicians' utterances; analysing how the positive self-representation and negative other-representation are uncovered in the politicians' utterances; and exploring the similarities and differences in these linguistic tools between the two opposing sides. To achieve these objectives, the research

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Publication Date
Mon Nov 30 2020
Journal Name
Journal Of Economics And Administrative Sciences
Analysis of women's job offer through entrepreneurship The case of Algeria
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The aim of this scientific paper is to highlight the effective role of women working in economic development, especially those working in the entrepreneurial sector, which we see as encouraging at the macro-economic level and at the personal level, by highlighting their potential to help them enter the private labour market, value them and empower their role in the economic arena in order to win this bet to become productive and effective workers at all levels.

Through this paper, we will try to highlight the role of Algerian women's contribution to economic development through access to the world of entrepreneurship, and we will also try to find statistics on their success levels at the local and interna

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Publication Date
Sat Jan 01 2022
Journal Name
Aip Conference Proceedings
Evaluation of FEMM software for magnetic analysis of the magnetorheological application
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Publication Date
Sat May 16 2009
Journal Name
Journal Of Planner And Development
Quantitative analysis of the economic characteristics of the land transport network
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Highway network could be considered as a function of the developmental level of the region, that it is representing the sensitive nerve of the economic activity and the corner stone for the implementation of development plans and developing the spatial structure. The main theme of this thesis is to show the characteristics of the regional highway network of Anbar and to determine the most important effective spatial characteristics and the dimension of that effect negatively or positively. Further this thesis tries to draw an imagination for the connection between highway network as a spatial phenomenon and the surrounded natural and human variables within the spatial structure of the region. This thesis aiming also to determine the natu

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Publication Date
Wed Jun 30 2004
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Theoretical Analysis of Concentric Flow of Spherical Capsule in Laminar Flow
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Publication Date
Sat Dec 14 2019
Journal Name
Journal Of The College Of Education For Women
Analysis of the Structure of Scientific News Headlines in Online Newspapers
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Newspaper headlines are described as compressed and ambiguous pieces of discourse that represent the bodies of the articles. Their main function is to provide the readers with an informative message they would have no prior idea about. Ifantidou (2009) claims that the function of a headline is to get the readers’ attention rather than providing information because it does not have to represent the whole of the article it refers to. This paper aims at examining this hypothesis in relation to scientific news headlines reported by a number of news agencies. The paper follows Halliday (1967) information structure theory by applying it on ten selected headlines; each two headlines represent one scientific discovery reported by different new

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