-
2241
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Published 2017“…</p><h3>Results</h3><p dir="ltr">We verified <i>de novo</i> pathogenic single nucleotide variants (SNV) in <i>ARID1B c.1595delG</i> and <i>PHF6 c.820C > T</i>, potentially causative <i>de novo</i> two base indels in <i>SQSTM1 c.115_116delinsTA</i> and <i>UPF1 c.1576_1577delinsA,</i> and <i>de novo</i> SNVs in <i>CACNB3 c.1289G > A,</i> and <i>SPRY4 c.508 T > A,</i> of uncertain significance. …”
-
2242
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family
Published 2023“…</p><h3>Results</h3><p dir="ltr">All affected individuals presented with a short stature without gross skeletal anomalies and significantly reduced serum GH levels. Genetic mapping revealed a homozygous nonsense mutation [NM_000823:c.G214T:p.…”
-
2243
Taxonomic discordance of immersive realities in dentistry: A systematic scoping review
Published 2024“…</p><h3>Clinical significance</h3><p dir="ltr">Understanding different reality classes can be perplexing due to their blurred boundaries and conceptual overlapping. …”
-
2244
Pharmacist input to depression screening and management in patients with diabetes: a systematic review
Published 2025“…No date restrictions were applied. Data extraction was based on Donabedian’s quality-of-care model, which categorizes findings into structure, process, and outcome. …”
-
2245
Prevalence of newly detected diabetes in pregnancy in Qatar, using universal screening
Published 2018“…This study aims to define the prevalence and outcomes of diabetes first detected in pregnancy based on 75-gram oral glucose tolerance test (OGTT)using the recent WHO/IADPSG guidelines in a high-risk population.…”
-
2246
Light chain amyloidosis presenting with autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome
Published 2020“…</p><h3>Diagnosis</h3><p dir="ltr">The patient was diagnosed as AIH-PSC overlap syndrome secondary to AL amyloidosis based on clinical symptoms, biochemical, and magnetic resonance cholangiopancreatography findings. …”
-
2247
Evaluating the authenticity of ChatGPT responses: a study on text-matching capabilities
Published 2023“…It is also necessary to consider the restricted knowledge base of AI language models like GPT and address any inaccuracies in generated references. …”
-
2248
An Empirical Investigation of Parasocial Relationship Theory in the Context of Virtual Influencers
Published 2024Get full text
doctoralThesis -
2249
The energy saving potential of using the optimum external fixed louvers configurations in an Office Building in UAE climate condition
Published 2011“…Studies on the effect of external fixed louvers shading device on office buildings energy performance in UAE climate condition have shown that the louvers application caused a significant energy saving potential for the South, East and West orientations. …”
Get full text
-
2250
Enhancing Thermal Comfort in Urban Communities with Urban Configurations and Green Coverage: A Case Study of Dubai Sustainable City
Published 2017“…The findings indicate that the layout orientation of the master plan has a significant effect on air temperature, wind speed and wind distribution within the site. …”
Get full text
-
2251
Boom or bust, extractives are no longer saviours: The need for robust tax regimes in Gulf countries
Published 2021“…<p dir="ltr">Over the last decades, extractive industries, especially the oil and gas sectors, have generated significant economic activity and growth in countries in the Gulf Cooperation Council (GCC). …”
-
2252
Current status of CO<sub>2</sub> capture with ionic liquids: Development and progress
Published 2023“…<p dir="ltr">Global warming triggered by greenhouse gas (GHG) emissions, particularly carbon dioxide (CO<sub>2</sub>), significantly influences climate change and has become a common environmental issue recently. …”
-
2253
Prevalence of hepatitis B and C viruses among migrant workers in Qatar
Published 2024“…Educational attainment and occupation were significantly associated with current HBV infection. …”
-
2254
Association between body mass index (BMI) percentile and asthma in children of 5–12 years old: A case–control study using electronic medical records in Primary Health Care Corporat...
Published 2019“…Asthma significantly increased the risk of being obese by 41% in bivariate analysis. …”
-
2255
Accelerating Sepsis Diagnosis Through Culture-Free Genomics: Early Findings And Cost-Effectiveness From A Pilot Study
Published 2025“…</p><h3 dir="ltr">Conclusion</h3><p dir="ltr">ONT-based 16S rRNA sequencing offers a rapid, sensitive, and cost-effective alternative to traditional blood cultures for diagnosing neonatal sepsis, with the potential to significantly improve clinical outcomes in NICU settings.…”
-
2256
Synergistic Effects of Glutaric Acid With Sorbic Acid and Sodium Bisulphite on Preserving the Quality of Refrigerated Sliced and Minced Salmon
Published 2025“…The results revealed that these combinations exhibited strong antimicrobial properties, with GLA‐SoB also demonstrating significant antioxidant activity. These findings were consistent across both in vitro and food model (using salmon) evaluations. …”
-
2257
Digital transformation and its multidimensional impact on sustainable business performance: evidence from a meta-analytic review
Published 2025“…The findings reveal a significant positive relationship, with the strongest impact observed on economic performance, followed by environmental and social performance. …”
-
2258
Trade finance in Qatar: blockchain and economic diversification
Published 2020“…Globally, particularly among micro, small and medium enterprises (MSMEs), there exists a significant and widening unmet demand for documentary finance. …”
-
2259
Teaching English in an engineering international branch campus: a collaborative autoethnography of our emotion labor
Published 2024“…Our study adds to the knowledge base of English teachers’ emotion labor in transnational and STEM spaces, while also showcasing CAE as a transformative methodology to explore language teachers’ emotion labor.…”
-
2260
A population study of clinically actionable genetic variation affecting drug response from the Middle East
Published 2022“…The allele frequencies of 1,320 variants in 703 genes affecting 299 drugs or class of drugs were significantly different between the Qatari population and other world populations. …”