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561
Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants
Published 2025-03-01“…Results All patients presented with a consistent constellation of congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint hyperlaxity, with co‐occurring contractures of large joints, and variable muscle involvement, evident both clinically and on muscle imaging. …”
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562
Neutral Mode Dominates the Forced Global and Regional Surface Temperature Response in the Past and Future
Published 2022-08-01“…Abstract Using a large suite of Green's function perturbation experiments, we construct the emergent dynamical operator for surface temperature and extract the most excitable mode. …”
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563
Deep-learning-based extraction of circle of Willis topology with anatomical priors
Published 2024-12-01“…Abstract The circle of Willis (CoW) is a circular arrangement of arteries in the human brain, exhibiting significant anatomical variability. …”
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564
Oil price shocks and human capital channels in Nigeria
Published 2024-12-01“…While many studies have investigated the relationship between oil price volatility and human capital development, few have examined how this relationship impacts both basic and advanced human capital channels in developing economies; this study addresses that gap by using a Structural Vector Auto Regression (SVAR) approach to investigate how oil price shocks influence human capital channels. Co-integration tests reveal significant long-term relationships among the variables. …”
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565
A novel method for calculating number buildup factor in gamma-ray transmission measurements using narrow beam geometry
Published 2024-01-01“…Furthermore, the slope of these linear relationships can be expressed as a product of mass density and a cubic polynomial function of the atomic number. Based on these findings, we developed a fitting formula to calculate the number buildup factor using the input variables of sample thickness, mass density, and atomic number. …”
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566
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567
Transcriptome analysis to decipher the molecular underpinnings of response to treatment in systemic lupus erythematosus
Published 2025-03-01“…Objective Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterised by variable treatment responses. We investigated the transcriptional landscape associated with treatment response and resistance in SLE.Methods Blood was collected from 92 active patients with SLE at baseline and after 6 months (n=32 paired samples) of treatment with cyclophosphamide (n=40), rituximab (n=20), belimumab (n=23), mycophenolate mofetil (n=8) or azathioprine (n=1) and was subjected to RNA sequencing. …”
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568
Divergent altitudinal patterns of arbuscular and ectomycorrhizal fungal communities in a mid-subtropical mountain ecosystem
Published 2025-04-01“…Among the examined factors, soil properties emerged as the predominant driver of altitudinal variations in ecosystem multifunctionality, followed by AMF communities and climatic variables. These findings provide critical insights into the ecological functions and environmental adaptations of mycorrhizal fungi, advancing our understanding of their responses to environmental changes in mountain ecosystems and informing evidence-based conservation strategies.…”
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569
IGF2BP3 promotes autophagy-mediated TNBC metastasis via m6A-dependent, cap-independent c-Met translation
Published 2025-07-01“…The cooperation of epigenetic modifications and metabolic adaptations enables tumor cells to dynamically adjust for survival in variable environments, which is crucial for tumor metastasis and worth exploring in depth. …”
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570
Serum proteomic correlates of mental health symptoms in a representative UK population sample
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571
Using preprocessed datasets to construct and interpret multiclass identification models
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572
An Engineered Soluble Single‐Chain TCR Engager for KRAS‐G12V Specific Tumor Immunotherapy
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573
Dataset on Environmental Parameters and Greenhouse Gases in Port and Harbor Seawaters of Jeju Island, Korea
Published 2025-07-01“…During August 2021, most sites functioned as sources of N<sub>2</sub>O, CH<sub>4</sub>, and CO<sub>2</sub> to the atmosphere. …”
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574
Artificial Intelligence Methods Applied to Catalytic Cracking Processes
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575
ARACOV-02. Specialized nutritional intervention and telerehabilitation in patients with long COVID: Protocol of a randomized controlled trial.
Published 2025-01-01“…The objective is to determine the change in quality of life, inflammatory profile, functional capacity and emotional variables in a group taking a nutritional supplement (SPMs) plus a telerehabilitation programme.…”
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576
Approach of Model Extension for Virtual Commissioning to Predict Energy Consumption of Production Systems
Published 2023-11-01“…This model is then exported as a Functional Mock-Up Unit (FMU) and co-simulated within a virtual commissioning environment. …”
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577
Capacity planning of hydro-wind-solar hybrid power systems considering hydropower forbidden zones
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578
Reevaluating multi-pool first-order kinetic models for fitting soil incubation data
Published 2025-03-01“…The results are regardless of the objective function used for model fitting (i.e., maximizing R2 for instantaneous or cumulative C effluxes). …”
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579
Insight into the Microbiota of Orthopteran in Relation to Gut Compartmentalisation
Published 2025-05-01“…This review first provides an overview of the functional diversity of Orthoptera-associated microbiota and the services they provide to their hosts. …”
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580