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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
Fri Jan 01 2021
Journal Name
International Journal Of Innovation, Creativity And Change
The importance of using the World Wide Web (the Internet) for professors of Arabic Language Department at the University of Baghdad‏
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Publication Date
Tue Jun 30 2020
Journal Name
Dialogo
The Problems of Applying Psychological, Educational and Political Measurement Instruments in light of the Prevalence of the Corona virus (Covid-19)
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Publication Date
Wed Jul 09 2025
Journal Name
University Of Anbar Sport And Physical Education Sciences
The Impact of the Concept Maps Strategy in the Guided Discovery Method at Learning the Skill of Layup Shooting of Basketball
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Publication Date
Fri Feb 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
Impact of quantitative (indirect) instruments of monetary policy on some indicators of financial stability in Iraq for the period (2003-2016)
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The indirect monetary policy tools led to financial stability for the period being studied through the use of indicators of financial stability (aggregate) to show the effect of the foreign reserves of the Central Bank of Iraq and its indirect instruments in achieving financial and economic stability, especially after the significant decline in oil prices and dependence of the Iraqi economy on Oil (rent) and lower reserves of the Central Bank of Iraq after 2014 and now compared to previous years, the goal of this research is to achieve financial stability according to selected indicators and achieve an optimal monetary policy to achieve the development goals of The economic policy in the country. Standard models were used to test

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Crossref
Publication Date
Thu Feb 07 2019
Journal Name
Iraqi Journal Of Laser
Investigation of Nonlinear Optical Characteristics of the Multi-Wall Carbon Nanotubes (MWCNT's) Suspensions using Nonlinear Self-Diffraction of a Laser Beam
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Nonlinear diffraction patterns can be obtained by focusing a laser beam through a thin slice of the material. Here, we investigated experimentally the formation of the far field nonlinear diffraction patterns of cw laser beam at 532 nm passing through a quartz cuvette containing multi-wall carbon nanotubes (MWCNT's) suspended in acetone and in DI water at concentrations of 0.030.wt.%, 0.045 wt.%, 0.060 wt.%, and 0.075 wt.%. Our results show that increasing the concentration of both types of suspensions (MWCNTs in acetone and MWCNTs DI water) led to increase in the number of pattern rings which indicates an increase in their nonlinear refractive indices. Moreover, MWCNTs DI water suspension at a concentration of 0.075 wt. % was more effic

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Publication Date
Wed Dec 30 2020
Journal Name
Journal Of Planner And Development
The Effect of Related Variables on the Rent Value of Residential Units Case study neighbourhood 409 in the city of Baghdad
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The rent is one of the sources of investment that generates returns for the owner of the housing unit, and it is also one of the importance expenditure for the tenant.

The importance of this research comes in addressing the deficiency in the field of analyzing the factors affecting the rental value of residential units, which affects many segments of the population of Baghdad.

The aim of this research is analyze and evaluate related variables on the rent value of residential units in neighbourhood 409 in city of BAGHDAD, which is a hypothesis that: There are a set of variables affecting the rental value, including those related to the internal environment of the dwelling, such as: income level, plot area, building area, n

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Publication Date
Thu Feb 06 2020
Journal Name
Political Sciences Journal
Self-immuniztion: integration of Russian strategic performance a study in the geopolitical orientation circles "of the stage of president putin"n
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In the period after the collapse of the Soviet Union in 1991, the Federal Republic of Russia witnessed a setback in the overall strategic performance of the country, as it went through a stage of performance flop between the orientation towards Europe in the era of President Boris Yelsen (1991-1999), or the change of direction towards Eurasia, as the Russian Federation managed After President Vladimir Putin assumed power in 2000, from rebuilding the same state and preserving national unity and social cohesion, as well as building a phased military doctrine that made clear moves in Russian strategic thought and future directions towards regions of eternal importance in Russian strategic perception Lack of a set of motivations based on it:

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Publication Date
Mon Dec 23 2019
Journal Name
Opcion
The Effect Of Employing The Strategy Of The TalkativeGroups On The Achievement And Attitudes Of ChemistryFor Fifth Grade Students Applied Scienc
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The study aimed to reveal the impact of employing the strategy of the talk-ative groups on the achievement and academic tendencies of chemistry forstudents of the fifth grade of applied science for the academic year (2018 -2019), and to achieve this goal the researcher used the experimental methodon the sample of the study consisting of (50) students, prepared achievementtest falls Under (60) paragraphs, and the scale of tendencies for chemistryfalls under (30) paragraphs, and after the researcher completed the researchexperiment according to what was planned:The superiority of the experimental group studied according to the strate-gy of the talkative groups was found in the post-application of the test ofachievement and attitudes of chemis

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Publication Date
Sun Feb 05 2023
Journal Name
مجلة تكريت للعلوم الادارية والاقتصادية
The role of strategic auditing of human resources management in crystallizing organizational capabilities: A prospective study at the University of Baghdad
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دور التدقيق الاستراتيجي لإدارة الموارد البشرية في بلورة القدرات التنظيمية دراسة استطلاعية في رئاسة جامعة بغداد

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Publication Date
Wed Jul 09 2025
Journal Name
Journal Of Physical Education
The Effect Of Psychological Counselling On The Development Of Psychological Skills and the Level Of First Class Soccer Referees (Baghdad governorate)
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