Results 81 to 90 of about 1,551 (209)

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Assessing China’s Waste Management Activities Using a Computable General Equilibrium Model

Chemical Engineering Transactions, 2018
In the last 30 years, China’s rapid economic development has been accompanied by serious environmental pollution problems. In 2007, the overall waste management cost is estimated to have reached about 230.5 bil CNY and 0.87 % of China’s Gross Domestic ...
Gen Li, Toshihiko Masul
doaj   +1 more source

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, EarlyView.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Trade Liberalization and Economic Diversification: A Dynamic CGE Model for The Economy of Qatar

Studies in Business and Economics, 2007
This paper develops a dynamic computable general equilibrium (CGE) model for Qatar with the view of getting some insights into the working of this a small open oil dependent economy. The model addresses three important issues that will determine the future path of Qatar economy. First, the issue of the oil price and its impact on the economy.
Nico Vellinga, Eisa AbdelGalil
openaire   +2 more sources

The road to hell is paved with good intentions: A review and research agenda on rebound effects and win–win strategies

International Journal of Management Reviews, EarlyView.
Abstract Rebound effects describe how efficiency improvements in energy or resource use can increase demand, thereby partially or fully offsetting expected environmental savings. This dynamic complicates win–win strategies that aim to improve environmental and financial performance.
Jozef Cossey, Aurélien Acquier
wiley   +1 more source

Ageing in Adults With Mild and Moderate Intellectual Disabilities in Brazil: A Biopsychosocial Comparison of Individuals With and Without Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Objectives The objective of this study is to investigate functional, cognitive, physical and nutritional outcomes in adults with intellectual disabilities (IDs), comparing individuals with and without Down syndrome from São Paulo, Brazil, and to evaluate the associations of group, degree of disability, age and sex with these outcomes ...
Leila Regina de Castro, Rita de Cassia Ernandes, Erika Christina Gouveia e Silva, Luciana Mascarenhas Fonseca, José Maria Montiel, Angelica Castilho Alonso   +5 more
wiley   +1 more source

Chronic silencing of subsets of cortical layer 5 pyramidal neurons has a long‐term influence on the laminar distribution of parvalbumin interneurons and the perineuronal nets

Journal of Anatomy, Volume 246, Issue 4, Page 479-504, April 2025.
Chronic silencing of subsets of layer 5 projection neurons has distinct effects on the laminar distribution of PV interneurons and the perineuronal nets in the adult primary motor and somatosensory cortex. Abstract Neural networks are established throughout cortical development, which require the right ratios of glutamatergic and GABAergic neurons ...
Florina P. Szabó, Veronika Sigutova, Anna M. Schneider, Anna Hoerder‐Suabedissen, Zoltán Molnár   +4 more
wiley   +1 more source

Aviation and the European Union Emission Trading System: A Bibliometric and Thematic Review

Journal of Economic Surveys, EarlyView.
ABSTRACT Aviation is generally recognized as one of the most carbon intensive forms of transport. In order to tackle aviation's environmental impact, in 2012 the sector has been (partially) included in the European Union Emission Trading System (EU ETS), a market‐based mitigation mechanism designed to put a price on carbon emissions and create an ...
Riccardo Colantuono
wiley   +1 more source

The Impact of Autonomous Truck Technology on US Interstate Trade

Journal of Regional Science, EarlyView.
ABSTRACT Recent advances in autonomous and semi‐autonomous vehicle technologies promise substantial cost savings for goods shipped by truck. In this study, we quantify the impacts of these transport cost reductions on the US interstate trade using a structural gravity model of domestic trade. Based on projected cost savings from the widespread adoption
Taejun Mo, Sandy Dall'erba, William Ridley, Yilan Xu, Hyungsun Yim   +4 more
wiley   +1 more source

Impact of Household Savings on Household Income and GDP in Iran: Using A CGE Model [PDF]

پژوهشهای اقتصادی, 2010
Exogenous shocks and economic fluctuations led to extensive changes in households’ savings. Changes in household savings can also influence macroeconomic indicators.
Davood Behbudi, Mahdi Shahraki, Simin Ghaderi   +2 more
doaj