A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report by Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas

“…Although initial genetic and immunological evaluations were unremarkable, exome sequencing ultimately revealed the novel p.R434Q mutation, which was confirmed through Sanger sequencing. …”
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Genetic Variants in Rare Ophthalmological Syndromes: Novel COL11A1 Splice Site Variant in a Brazilian Family with Stickler Syndrome Type 2 by Pedro Filipecki Mansilla, Vagner Loduca Lima, Gustavo Henrique Araújo Salomão, Denise Maria Christofolini

“…Genetic evaluation with genome sequencing (WGS) is to describe the genotypic characteristics of the proband and confirmation of the finding by family-specific variant sequencing (NGS). …”
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Computational approaches to apply the String Edit Algorithm to create accurate visual scan paths by Ricardo Palma Fraga, Ziho Kang

“…An inaccurate threshold might also affect the resulting visual scan path, the time-ordered sequence of eye fixations and saccades, carried out by the participant. …”
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RS4 Type Resistant Starch Improves Type 2 Diabetes Mellitus in Mice by Interacting With Lactobacillus johnsonii by Tao Xu, Yongheng Zhong, Shengyang Ji, Hang Xiao, Jun Li, Kaimian Li, Peiwu Li, Baiyi Lu

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Correlation between Acoustic Feature and Sensory Crispness of Different Puffed Food Based on Energy Release Analysis by Chengkai ZHU, Xinnan HU, Zhili JI, Wangyang SHEN, Xiwu JIA

“…The results of sensory evaluation showed that samples with higher "crispness" were more likely to obtain higher evaluation scores. …”
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New Realities of the Enterprise Management System Information Support: Economic and Mathematical Models and Cloud Technologies by Anatolii Asaul Asaul, Mykhailo Voynarenko, Liudmyla Yemchuk, Larysa Dzhulii

“…In the process of research, the sequence of construction and the overall structure of the enterprise management system, based on the use of cloud technologies, are determined, which allowed to build a mathematical model for calculating the probability of making an error-free decision, evaluating the efficiency of decision-making, a model of making a management decision for a certain time with the parallel method of operation of elements of the enterprise management system.…”
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Amodiaquine drug pressure selects nonsynonymous mutations in pantothenate kinase 1, diacylglycerol kinase, and phosphatidylinositol-4 kinase in Plasmodium berghei ANKA [version 3;... by Peter Mwitari, Francis Kimani, Daniel Kiboi, Brenda Muriithi, Jean Chepngetich, Kevin Thiong'o, Beatrice Gachie, Jeremiah Gathirwa, Mercy Jepkorir

“…Methods We used in silico bioinformatics tools to identify ligand-binding motifs, active sites, and sequence conservation across the different parasites. …”
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Hemodynamic changes and their relationship with white matter hyperintensities in CSVD patients with cognitive impairment: a 4D flow study by Jiajun Cao, Chang Yuan, Zhenpeng Zhang, Xiaoying Zhao, Yukun Zhang, Peipei Chang, Qingwei Song, Bingwei Zhang, Rui Hu, Yanwei Miao

“…ObjectiveTo observe the hemodynamics of intracranial arteries and veins in patients with cerebral small vessel disease (CSVD) with cognitive impairment (CI), and to explore the association between these flow features and white matter hyperintensities (WMH).Materials and methodsA total of 53 patients with CSVD were included in the study, comprising 30 patients with CI (CI group) and 23 patients with non-CI (NCI group); Meanwhile, 25 age-matched cognitively healthy volunteers were recruited. WMH burden was evaluated using a 2D axial T2-FLAIR sequence. A 4D flow MRI was employed to measure intracranial hemodynamic features, including cross-sectional area, flow rate, blood flow velocity, wall shear stress (WSS), pulsatility index, and resistive index in the internal carotid artery (ICA), middle cerebral artery, basilar artery (BA), transverse sinus (TS), straight sinus (SS), and superior sagittal sinus (SSS). …”
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Functional Analysis of CPSF30 in <i>Nilaparvata lugens</i> Using RNA Interference Reveals Its Essential Role in Development and Survival by Shengli Jing, Jing Yang, Yali Liu, Feifei Wang, Fang Zheng, Aobo Ren, Bingbing Yu, Yue Zhao, Bing Jia, Ruixian Chen, Bin Yu, Qingsong Liu, Jingang Xu

“…Sequence alignment revealed that NlCPSF30 is highly conserved among insect species, particularly in the zinc-finger domains essential for RNA binding and processing. …”
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High prevalence of carbapenem-resistant Enterobacter cloacae complex in a tertiary hospital over a decade by Shiqi Cai, Jingjing Quan, Zhengan Wang, Huangdu Hu, Xinhong Han, Yan Jiang, Qing Yang, Yunsong Yu, Zhihui Zhou

“…Antimicrobial susceptibility tests were performed. Whole-genome sequencing was used to analyze the molecular characteristics of the CRECC isolates. …”
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Unraveling the role of HDAC3 as an immunotherapy prognostic biomarker and therapeutic target in advanced non-small cell lung cancer by Liyuan Dai, Liling Huang, Lin Li, Le Tang, Yuankai Shi, Xiaohong Han

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Application of a Hybrid Model Based on CEEMDAN and IMSA in Water Quality Prediction by GUO Li-jin, WU Hao-tian

“…[Methods] First, the original water quality sequence was decomposed using Complete Ensemble Empirical Mode Decomposition with Adaptive Noise (CEEMDAN). …”
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Probiotic Characterization, Safety and Whole Genome Association Analysis of Lacticaseibacillus rhamnosus Z23 by Yuxing HE, Gaowa BAI, Jinghe YU, Wei LIU, Xiaofeng YANG, Mingchao LIU, Wuyundalai

“…In the present study, the in vitro probiotic properties of Lacticaseibacillus rhamnosus Z23, which was isolated from Hurunge, were characterized, and in vitro and in vivo safety evaluations were conducted. Finally, the whole genome sequence of the strain was determined, and the probiotic properties of the strain were explored in depth by combining genotypic and phenotypic methods. …”
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SAGCN: Self-Attention Graph Convolutional Network for Human Pose Embedding by Zhongxiong Xu, Jiajun Hong, Yicong Yu, Chengzhu Lin, Linfei Yu, Meixian Xu

“…We further introduce probabilistic pose embeddings to represent inherent multi-view pose uncertainty. Evaluated on Human 3.6M and MPI-INF-3DHP for cross-view retrieval, and on PenAction for sequence alignment, SAGCN outperforms existing methods in retrieval and achieves competitive alignment results compared to specialized approaches.…”
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Bayesian estimation of the relative deviations between activities in the radionuclide standardization by Fabio Ludolf Cacais, José Ubiratan Delgado, Victor Manuel Loayza, Johnny Almeida Rangel

“…The dissemination of the activity is performed from radionuclide sources prepared in a sequence of dilutions and weighing methods. In this process, the activity of the source can be estimated statistically from the deposited mass and the activity concentration of the master solution. …”
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Application of capacity sensor control in the organic waste bioconversion process to optimize standard time and work posture assessment by Setyaningrum Ratih, Ahmad Claudia Pitri, Ramdhani Safarudin, Arsiwi Pramudi

“…The primary data taken are: data on the sequence of the maggot production process. Optimizing bioconversion using capacity sensor control. …”
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Statistical Skimming of Feature Films by Sergio Benini, Pierangelo Migliorati, Riccardo Leonardi

“…The skim is generated as an observation sequence, where, in order to privilege more informative segments for entering the skim, shots are assigned higher probability of observation if endowed with salient features related to specific film genres. …”
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Semi-supervised method for anomaly detection in HTTP traffic by Malki Ishara Wasundara, Junwei Zhou, Yanchao Yang, Dongdong Zhao, Jianwen Xiang

“…We propose a semi-supervised method that combines domain-specific language modeling with sequence reconstruction to identify anomalies in HTTP requests. …”
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Medullary Nephrocalcinosis – Unraveling a Mystery by S. Ravitej, Mohammed Fahad Khan, Shilpa Shetty, Kishore Babu, H. Sudarshan Ballal

“…This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to have medullary nephrocalcinosis with hypercalciuria. …”
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A Vehicle Trajectory Planning Method for Narrow Corridor in Mines Based on Optimal Control by LIN Xuerong, XIE Heping, XU Biao, YUAN Shijie, BIAN Yougang, HU Manjiang, QIN Zhaobo, HU Jiaxi

“…By vehicle kinematics integral, the control variable sequence solved by the above trajectory planning model leads to an initial optimal trajectory. …”
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