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281
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
Published 2020“…<p dir="ltr">We report a genomic and phenotypic delineation for two chromosome regions with candidate genes for syndromic intellectual disability at 12q12 and Xp22.31, segregating independently in one family with four affected members. Fine mapping of three affected members, along with six unreported small informative CNVs, narrowed down the candidate chromosomal interval to one gene LRRK2 at 12q12. …”
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282
Driving against the clock: Investigating the impacts of time pressure on taxi and non-professional drivers’ safety and compliance
Published 2024“…<p>Drivers often encounter time pressure, which can lead to riskier driving habits, decreased safety margins, and a higher chance of accidents. …”
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283
Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
Published 2023“…The Centers for Disease Control and Prevention Office of Public Health Genomics has designated cascade genetic testing as a tier one genomic application for Hereditary Breast and Ovarian Cancer and Lynch syndrome. …”
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284
A Case Study in Qatar for Optimal Energy Management of an Autonomous Electric Vehicle Fast Charging Station with Multiple Renewable Energy and Storage Systems
Published 2020“…This interest has focused mainly on reducing the reliance on fossil fuel-based means of transportation and decreasing the harmful emissions produced from this sector. …”
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285
Two-stage optimisation for malachite green removal using activated date pits
Published 2022“…<p>Water pollution, from industry and agriculture, is a major threat to water security in the light of decreasing global potable water resources. Adsorption is one potential treatment technology for the removal of different contaminants from polluted water. …”
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286
A Modification to Enhance the Survival of the Island FDMA Flap by Adding a Skin Bridge
Published 2021“…We combined Foucher and Holevich characteristics to design a flap that promises to solve the problem.</p><h3>Methods</h3><p dir="ltr">This is a case series that includes 9 patients where we describe a technique that has the potential to enhance the survival of the first dorsal metacarpal artery (FDMA) flap and decreases the rate of distal necrosis via addition of a 5-mm skin bridge to the pedicle and by avoiding tunneling. …”
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287
Characterization of Non-hormone Expressing Endocrine Cells in Fetal and Infant Human Pancreas
Published 2019“…<h3>Context: </h3><p dir="ltr">Previously, we identified chromograninA positive hormone-negative (CPHN) cells in high frequency in human fetal and neonatal pancreas, likely representing nascent endocrine precursor cells. …”
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288
Prevalence of polypharmacy and the association with non-communicable diseases in Qatari elderly patients attending primary healthcare centers: A cross-sectional study
Published 2020“…The elderly population is the most susceptible to the negative effects of polypharmacy due to their altered pharmacokinetics and decreased drug clearance. Therefore, polypharmacy can lead to poor health status and higher rates of morbidity and mortality. …”
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289
Effect of Intravenous Mannitol on Intraocular Pressure Changes in Vitrectomized and Non-Vitrectomized Eyes: A Systematic Review and Meta-Analysis
Published 2024“…In vitrectomized eyes, notable decreases were observed: at 30 min, the Ratio of Means (ROM) was 0.81 (95% CI: 0.53; 1.24), indicating a 19% reduction; at 60 min, the ROM of 0.833 (95% CI: 0.77; 0.89) showed a 16.7% reduction; at 90 min, the ROM of 0.757 (95% CI: 0.755; 0.758) corresponded to a 24.3% reduction; at 2 h, the ROM of 0.726 (95% CI: 0.642; 0.820) reflected a 27.4% reduction; at 3 h, the ROM of 0.692 (95% CI: 0.600; 0.797) resulted in a 30.8% reduction; and at 4 h, the ROM of 0.700 (95% CI: 0.363; 1.350) indicated a 30% reduction. …”
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290
Correction: Prevalence of polypharmacy and the association with non-communicable diseases in Qatari elderly patients attending primary healthcare centers: A cross-sectional study
Published 2020“…Females were 1.18 times more likely to have polypharmacy compared to males (95% CI: 1.03–1.34). …”
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291
Exergames versus self-regulated exercises with instruction leaflets to improve adherence during geriatric rehabilitation: a randomized controlled trial
Published 2017“…Adherence was comparable at day one (38 min. in the EG and 42 min. in the CG) and significantly higher in the CG at day 10 (54 min. in the CG while decreasing to 28 min. in the EG, <i>p</i> = 0.007, ES 0.94, 0.39–0.151). …”
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292
Channel Network Control on Seasonal Lake Area Dynamics in Arctic Deltas
Published 2020“…This shrinkage signal, easily extracted from remote sensing observations, may offer the means to constrain estimates of lacustrine methane emissions and to develop process-based estimates of depth to permafrost on arctic deltas.…”
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293
Optimization of Community Integrated Energy System for the State of Qatar Towards Sustainable Development
Published 2025“…The findings provide a pathway for sustainable urban planning and energy system design, reinforcing the significance of integrated energy solutions in achieving national targets.…”
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294
Pilot testing of a novel Multi Effect Distillation (MED) technology for seawater desalination
Published 2021“…Both the pilot testing and the simulation results confirm the features of the novel design of the MED. By implementing this invention's design, the heat transfer area has been decreased and accordingly, the capital cost of the evaporator is reduced by 20%. …”
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295
Increased footwear comfort is associated with improved running economy – a systematic review and meta‐analysis
Published 2021“…Running economy during constant submaximal running is likely improved in recreational runners wearing more comfortable compared to less comfortable footwear. …”
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296
The Effect of Soy Isoflavones on Steroid Metabolism
Published 2019“…</p><h3>Results</h3><p dir="ltr">SPI decreased serum dehydroepiandrosterone sulfate (DHEAS) levels in both men and women (P < 0.01), with decreased androstenedione (A4) (P < 0.01) in women not observed in men (P < 0.86). …”
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297
Thermal energy storage with phase change materials to increase the efficiency of solar photovoltaic modules
Published 2017“…The results show that, compared to the case without PCM module, the peak temperature of the solar module for a daily cycle can be decreased by approximately 20 K by an adequate design with a limited usage of metallic structure. …”
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298
Preterm birth in low-middle income Countries
Published 2024“…Although the overall trend is decreasing, this is mainly in high-income countries (HIC). …”
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299
Epidemiological and clinical characteristics of fall-related injuries: a retrospective study
Published 2020“…Males were predominant (89%), more likely to fall at workplace, fall from a greater height and have polytrauma than females. …”
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300
CRISPR-Cas Controls Cryptic Prophages
Published 2022“…Specifically, compared to the wild-type strain, reducing the amounts of specific interfering RNAs (crRNA) decreases growth by 40%, increases cell death by 700%, and prevents persister cell resuscitation. …”