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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Sun Mar 15 2026
Journal Name
Arab World English Journal
Teachers’ Perspectives on the Challenges of Incorporating AI Chatbots into Writing Instruction for Arab EFL Learners
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The current paper examines the Arab EFL teacher view on the application of AI-based chatbots as a method of aiding writing instruction. It explores pedagogy, didactic difficulties and ethics. The overall aim is to clarify the perception that teachers have of AI chatbots as a useful tool in the writing process and to find out to what degree these perceptions are reflected in instructional decision-making and classroom behaviors. A quantitative study was conducted using a structured questionnaire that was given to forty Arab EFL teachers, using a sequential explanatory mixed-method design. To elaborate and contextualize the survey results, qualitative enquiry was implemented through semi-structured interviews with twelve teachers. Fin

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Publication Date
Thu Dec 30 2021
Journal Name
College Of Islamic Sciences
Title of Thesis The creedal purposes deduced from the Almighty’s saying: {It is easy for me}
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 Summary

    I wanted to address this topic because of creedal purposes importance,and its r le in regulating lives of individuals and society, and to talk about purposes of Almighty's saying:{It is easy for me},to simplify its meanings for general educated person to obtain the believe of the Creator’s power and his oneness.

Therefore,this research came,whichincludes:an introduction and topics, first :concept of creedal objectives and their divisions,second: creedal purposes in Almighty’s saying:{It is easy for me},and conclusion:in where most important results were included:

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Publication Date
Fri Feb 08 2019
Journal Name
Iraqi Journal Of Laser
Writing of a Bragg Grating on a D-shaped Optical Fiber Using the KrF Excimer Laser
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Fiber Bragg Grating has many advantages where it can be used as a temperature sensor, pressure sensor or even as a refractive index sensor. Designing each of this fiber Bragg grating sensors should include some requirements. Fiber Bragg grating refractive index sensor is a very important application. In order to increase the sensing ability of fiber Bragg gratings, many methods were followed. In our proposed work, the fiber Bragg grating was written in a D-shaped optical fiber by using a phase mask method with KrFexcimer. The resultant fiber Bragg grating has a high reflectivity 99.99% with a Bragg wavelength of 1551.2 nm as a best result obtained from a phase mask with a grating period of 1057 nm. In this work it was found that the rota

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Synthesis, Characterization of some New 1, 3, 4-Oxadiazole derivatives based on 4- amino benzoic acid
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In this research various of 2,5-disubstituted 1,3,4-oxadiazole (Schiff base, oxo-thiazolidine , and other compounds) were synthesized from 2,5-di(4,4?- amino-1,3,4-oxadiazole ) which use quently synthesized from mixture of 4-amino benzoic acid and hydrazine in the presence of polyphosphorus acid. The synthesized compounds were characterized by using some Spectral data (UV, FT-IR, and 1H-NMR).

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Publication Date
Wed Jul 01 2015
Journal Name
Journal Of Engineering
Optimal Location of Static Synchronous Compensator (STATCOM) for IEEE 5-Bus Standard System Using Genetic Algorithm
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Heuristic approaches are traditionally applied to find the optimal size and optimal location of Flexible AC Transmission Systems (FACTS) devices in power systems. Genetic Algorithm (GA) technique has been applied to solve power engineering optimization problems giving better results than classical methods. This paper shows the application of GA for optimal sizing and allocation of a Static Compensator (STATCOM) in a power system. STATCOM devices used to increase transmission systems capacity and enhance voltage stability by regulate the voltages at its terminal by controlling the amount of reactive power injected into or absorbed from the power system. IEEE 5-bus standard system is used as an example to illustrate the te

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Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
Risks assessment for the retrieval of radioactive waste from the old Russian cemetery Al -Tuwaitha site
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In this work the radioactive wastes in the Old Russian
Cemetery Al -Tuwaitha site were classified according to risks for
workers who are involved in the retrieval process. The exposure
assessment results expressed as estimates of radionuclide intakes by
inhalation and ingestion, exposure rates and duration for external
exposure pathways, and committed effective dose equivalents to
individuals from all relevant radionuclides and pathways. Results
showed the presence of natural radionuclides Ra-226, Th-234 and K-
40, as well as the produced radionuclide Cs-137 and Eu-152 in the
cemetery wells. The absorbed doses from the waste were classified to
two categories; exempt waste and low level waste according to

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Economics And Administrative Sciences
The impact of strategic leadership skills on effective environmental management according to the (VUCA Prime) model
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Purpose: clarify the integrative relationship of strategic leadership skills and effective management and the role of those skills combined or individually in achieving effective management.

Research design: The researchers used the quantitative method by surveying a class sample from the heads of the executive departments in a group of Iraqi private banks, consisting of (106) individuals according to the (VUCA Prime) methodology for effective management and the ten skills model for Johansen. The questionnaire was analyzed using a model of the structural equation.

Findings: The most prominent results of the research were the presence of a weak ro

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Publication Date
Fri Aug 20 2021
Journal Name
Iraqi Journal Of Laser
Permeability of Radicular Dentine after Using Different Irrigant Activation Techniques Including Photo Induce Photoacoustic Streaming Technique
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Background: preparation of root canals is an important step in root canal treatment. Mechanical instrumentation of root canals cause an irregular layer of debris, known as the smear layer. As a result, several studies reported that preferring the removal of the smear layer. Objective: To study the influence of the energy (100 mJ) of Erbium, Chromium: Yttrium Scandium Gallium Garnet (Er,Cr:YSGG) laser at short pulse duration (60 μs)  on smear layer removal of apical third after using Photon induced photoacoustic streaming technique. Materials and methods: Eighteen straight single-rooted mandibular premolars were used. The roots length were uniform to 14mm from the anatomic apex and

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Publication Date
Thu Jun 08 2023
Journal Name
Iraqi Journal Of Laser
PDF Performance Study of Polarization Beam Splitters Based on Horizontal Slot Waveguide Operating at 700nm Wavelength
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Abstract: Polarization beam splitter (PBS) integrated waveguides are the key components in the receiver of quantum key distribution (QKD) systems. Their function is to analyze the polarization of polarized light and separate the transverse-electric (TE) and transverse-magnetic (TM) polarizations into different waveguides. In this paper, a performance study of polarization beam splitters based on horizontal slot waveguide has been investigated for a wavelength of . PBS based on horizontal slot waveguide structure shows a polarization extinction ratio for quasi-TE and quasi-TM modes larger than  with insertion loss below  and a bandwidth of . Also, the fabrication tolerance of the structure is analyzed.<

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Publication Date
Mon Jan 01 2024
Journal Name
2nd International Conference For Engineering Sciences And Information Technology (esit 2022): Esit2022 Conference Proceedings
Numerical solution to inverse coefficient problem for hyperbolic equation under overspecified condition of general integral type
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