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5201
First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
Published 2024-12-01“…The dysmorphic features, global developmental delay and hypoparathyroidism associated with persistent and severe hypocalcaemia led to the investigation by CMA which detected a 9.5 Mb heterozygous terminal loss of chromosome 10p15.3p14; GATA3 is included in this region. …”
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5202
Characteristics of clinical, laboratory, and immunological manifestations in patients with anticentromere antibody-associated Sjögren's disease
Published 2020-11-01“…MALT lymphomas were detected in 19 ACA-positive patients. Those were present only in BS patients and absent in the SDS group. …”
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5203
Spatial Variability and Periodicity of Precipitation in the Middle Reaches of the Yellow River, China
Published 2016-01-01“…However, periodical features in most of the study area are not statistically noticeable. …”
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5204
Clinicopathologic characterization of diffuse-large-B-cell lymphoma with an associated serum monoclonal IgM component.
Published 2014-01-01“…IgM MC was detected in 19 (12.5%) out of 151 patients at disease onset. …”
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5205
Influence of Digital Elevation Model Resolution on the Normalized Stream Length–Gradient Index in Intraplate Regions: A Case Study of the Yangsan Fault, Korea
Published 2025-05-01“…Therefore, understanding the impact of DEM resolution on SLk analysis is critical for accurately detecting and interpreting subtle tectonic signals, particularly in intraplate regions where deformation is slow and geomorphic expressions are faint and discontinuous. …”
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5206
Non-secretory myeloma: clinical profile and diagnostic utility of immunohistochemistry and free light chain assay in a rare variant of plasma cell myeloma
Published 2025-04-01“…Patients who presented with the clinical features indicative of MM but lacked detectable M-protein on high-resolution serum electrophoresis (HRSE) and urine protein electrophoresis (UPEP) were included in the study. …”
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5207
A novel lncRNA-hidden polypeptide regulates malignant phenotypes and pemetrexed sensitivity in A549 pulmonary adenocarcinoma cells
Published 2024-02-01“…The polypeptide had tumor-suppressor features in A549 cells by repressing cell growth, motility and invasion. …”
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5208
Hydrolytic Degradation and Assessment of Performance of PLA and PBS-Based Plastics Designed for Packaging Applications
Published 2025-01-01“…FTIR for both PLA and PBS-based materials indicated that the typical features of the polymers were not significantly changed at the different tested temperatures and no degradation products were detected at pH 3, 5, and 7.5. …”
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5209
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders
Published 2025-02-01“…Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant. …”
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5210
Logopenic and nonfluent variants of primary progressive aphasia are differentiated by acoustic measures of speech production.
Published 2014-01-01“…Measures, corresponding to perceptual features of apraxia of speech, were periods of silence during reading and relative vowel duration and intensity in polysyllable word repetition. …”
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5211
Jet-mode Feedback in NGC 5972: Insights from Resolved MUSE, GMRT, and VLA Observations
Published 2025-01-01“…NGC 5972, a Voorwerp galaxy, features a helical-shaped extended emission-line region (EELR) with a radius >10 kpc and an S-shaped radio structure spanning about 470 kpc. …”
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5212
The influence of social media marketing on the quality of hotel services and the behavioral intentions of tourists
Published 2025-05-01“…Data collection and analysis are carried out through questionnaire surveys and multiple regression assessment. …”
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5213
AI-driven preclinical disease risk assessment using imaging in UK biobank
Published 2025-07-01“…Abstract Identifying disease risk and detecting disease before clinical symptoms appear are essential for early intervention and improving patient outcomes. …”
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5214
Recurrent intussusception in children
Published 2017-10-01“…The study considered the rate and clinical features of recurrent intussusception in children. …”
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5215
Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution
Published 2025-04-01“…Current guidelines recommend karyotype as the first-line test rather than SNP microarray analysis when aneuploidy is suspected. Conventional cytogenetics is still necessary to understand structural abnormalities, provide genomic context, and detect low-level mosaicism. …”
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5216
Advanced Computer Vision Methods for Avian Risk Assessment Using Multispectral Drones
Published 2025-01-01“…This system leverages state-of-the-art computer vision techniques with spatial analysis characteristics to analyze wildlife bird behavior through optical cameras and extract features for each bird. …”
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5217
Hereditary sensory autonomic neuropathy type VI in the age of genetic testing
Published 2024-12-01“…A comprehensive neuropathy panel detected a homozygous pathogenic variant in the DST gene—alternate transcript NM_015546.4:c.1357G>A (p.Trp4525*). …”
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5218
Prediction of the potential global distribution for Biomphalaria straminea, an intermediate host for Schistosoma mansoni.
Published 2018-05-01“…We used several approaches to investigate the distribution of B. straminea, including direct comparison of climatic conditions, principal component analysis and niche overlap analyses to detect niche shifts. …”
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5219
Different neutrophil extracellular trap related Ewing sarcoma subtypes exhibit distinct prognosis, and immune microenvironment characteristics
Published 2025-07-01“…Abstract Ewing sarcoma (EWS) is a rare bone cancer that is most usually detected in children. Neutrophil extracellular traps (NETs) are closely related to the prognosis of cancer, but the significance of NET-related features in EWS remains uncertain. …”
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5220
Genome Instability-Related miRNAs Predict Survival, Immune Landscape, and Immunotherapy Responses in Gastric Cancer
Published 2021-01-01“…The GIMiSig showed high accuracy in detecting GC patients. Using GIMiSig to stratify the patients into the high- and low-risk subgroups to predict survival outperformed the use of regular clinical features such as age, gender, or disease stage. …”
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