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1281
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes
Published 2022-01-01“…Classical FOP results from the heterozygous p.Arg206His variant of the ACVR1 gene, which encodes Activin A receptor type 1. Recently, some atypical FOP patients with other ACVR1 gene variants and clinical features that are not observed in classical FOP patients have been reported. …”
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1282
Unsupervised learning trajectory anomaly detection algorithm based on deep representation
Published 2020-12-01“…Second, shallow features are integrated into auto-encoder-based deep feature fusion model, and the fusion feature sequences can be extracted. …”
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1283
Recalculating: The atlas of pragmatic parameters of developmental disorders
Published 2019-12-01“…We apply ÂeALIS, the pragmasemantic system (Alberti, Kleiber, Schnell, & Szabó 2016) which offers a formal representation for linguistically encoded speech acts and for the beliefs, desires and intentions that are present in the minds of potential interlocutors. …”
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1284
Monte–Carlo Techniques Applied to CGH Generation Processes and Their Impact on the Image Quality Obtained
Published 2025-01-01“…In contrast, Computed Generated Holograms (CGH) focus on encoding and recreating light patterns to generate a true 3D holographic image that appears as a physical object in space. …”
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1285
Genome Sequencing of Hericium coralloides by a Combination of PacBio RS II and Next-Generation Sequencing Platforms
Published 2022-01-01“…We predicted ncRNAs of 48,895 bp and 11,736 genes encoding proteins that were annotated in the GO, eggNOG, and KEGG databases. …”
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1286
Improved CLIP-ILP Model for Detecting Illegal Passenger Transport in Freight Trucks
Published 2025-01-01“…The proposed model incorporates multi-scale feature fusion, a cross-modal self-attention mechanism, and a more powerful text encoder to enhance detection performance. To evaluate the model, we constructed a comprehensive dataset consisting of tens of thousands of truck images, categorized into two types of trucks (four-wheeled and three-wheeled) and further classified into two subcategories: “illegal passenger transport” and “non-illegal passenger transport.…”
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1287
Investigating time-independent and time-dependent diffusion phenomena using steady-state diffusion MRI
Published 2025-01-01“…Building on Extended Phase Graphs (EPG), I establish two alternative representations of the DW-SSFP signal in terms of (1) conventional b-values (time-independent diffusion) and (2) encoding power-spectra (time-dependent diffusion). …”
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1288
Human cytomegalovirus RNA2.7 inhibits ferroptosis by upregulating ferritin and GSH via promoting ZNF395 degradation.
Published 2024-12-01“…Human cytomegalovirus (HCMV) is a herpes virus with a long replication cycle. HCMV encoded long non-coding RNA termed RNA2.7 is the dominant transcript with a length of about 2.5kb, accounting for 25% of total viral transcripts. …”
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1289
RETRACTED: Robot Path Planning Method Based on Indoor Spacetime Grid Model
Published 2022-05-01“…Finally, the indoor spacetime grid modeling experiment is carried out with real data, which verifies the feasibility and correctness of the spacetime relationship calculation algorithm encoded by the indoor spacetime grid model. Then, experiments are carried out on the multi-group path planning algorithms of the robot under the spacetime grid, and the feasibility of the STA* algorithm under the indoor spacetime grid and the superiority of the spacetime grid are verified.…”
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1290
A Netnographic Reception Analysis of Main News Bulletins
Published 2024-12-01“…Researchers of the British Cultural Studies Tradition introduced the reception method to the literature and proposed a model called encoding-decoding. Contrary to the American Behaviourist Approach, the researchers stated that the texts presented by the mass media are not met with absolute acceptance by the society and argued that individuals construct a new meaning by filtering the messages presented through their own filters. …”
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1291
DR_PVNet: An Improved PVNet Network for Weakly Textured Object Pose Estimation in Indoor Complex Environments
Published 2025-01-01“…The first step is to add the RFB_a module between the encoder and decoder, enhancing the semantic segmentation of the network. …”
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1292
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces
Published 2016-01-01“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
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1293
Therapies for Mitochondrial Disorders
Published 2022-12-01“…Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. …”
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1294
De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura
Published 2021-01-01“…Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo genetic mutation of the ADAMTS13 gene and a rare complication of cTTP in a neonate. …”
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1295
Role of Farnesoid X Receptor in the Pathogenesis of Respiratory Diseases
Published 2020-01-01“…Farnesoid X receptor (FXR) is a bile acid receptor encoded by the Nr1h4 gene. FXR plays an important role in maintaining the stability of the internal environment and the integrity of many organs, including the liver and intestines. …”
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1296
An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
Published 2014-01-01“…More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. …”
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1297
Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes
Published 2014-01-01“…Genetic factors most correlated with warfarin dose requirements are variations in the genes encoding the enzymes cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKOR). …”
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1298
Extracting the symmetries of nonequilibrium quantum many-body systems
Published 2025-02-01“…Our approach is based on exact relations between correlation functions involving different numbers of spatial points, which can be viewed as nonequilibrium versions of (equal-time) Ward identities encoding the symmetries of the system. We derive symmetry witnesses, which are particularly suitable for the analysis of measured or simulated data at different snapshots in time. …”
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1299
Association Between MLH1 Gene rs63749820 Polymorphism and the Risk of Breast Cancer in Northwest of Iran
Published 2024-10-01“…Background and Aim: According to the available statistics in 2020, breast cancer was the most common cancer in women. The protein encoded by the MLH1 gene is part of the mismatch repair (MMR) system. …”
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1300
Comparative metagenomics reveals the metabolic flexibility of coastal prokaryotic microbiomes contributing to lignin degradation
Published 2025-01-01“…Further comparative metagenomic analysis, based on metagenomic assembly, revealed that L18 harbored abundant metagenome-assembled genomes (MAGs) that encoded diverse and unique lignin degradation gene clusters (LDGCs). …”
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