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3981
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA...
Published 2020-01-01“…This study describes one of the widest cohorts of TRAPS patients in the literature, suggesting that the clinical expression of this syndrome is more influenced by the penetrance of the mutation rather than by the age at onset itself. Given the high phenotypic heterogeneity of the disease, a definite diagnosis should rely on both accurate working clinical assessment and complementary genotype.…”
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3982
Performance of a hybrid capture-based target enrichment next-generation sequencing for the identification of respiratory pathogens and resistance-associated genes in patients with...
Published 2025-01-01“…Unlike conventional phenotypic approach, novel measures using molecular interrogation appear promising. …”
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3983
An integrated microbiome- and metabolome-genome-wide association study reveals the role of heritable ruminal microbial carbohydrate metabolism in lactation performance in Holstein...
Published 2024-11-01“…To address this gap, we collected and analyzed whole-genome resequencing data, rumen metagenomes, rumen metabolomes and short-chain fatty acids (SCFAs) content, and lactation performance phenotypes from a cohort of 304 dairy cows. Results The results indicated that the proportions of highly heritable subsets (h 2 ≥ 0.2) of the rumen microbial composition (55%), function (39% KEGG and 28% CAZy), and metabolites (18%) decreased sequentially. …”
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3984
Dysplasie faciale chez les chimpanzés sauvages de Sebitoli, parc national de Kibale, Ouganda : approches éthologiques, ethnographiques et agronomiques
Published 2015-03-01“…Près de 10 % des 80 chimpanzés composant la communauté de chimpanzés sauvages (Pan troglodytes schweinfurthii) de Sebitoli, dans le parc national de Kibale en Ouganda, présentent des phénotypes faciaux singuliers. L'étiologie de cette malformation est inconnue mais des études menées sur des groupes de macaques au Japon et à Hong Kong sévèrement affectés par des anomalies des membres (jusqu'à 17 % des individus dans les groupes de macaques approvisionnés en nourriture potentiellement contaminée par des pesticides) suspectent une origine congénitale liée aux agents tératogènes contenus dans les pesticides. …”
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3985
4-Octyl itaconate inhibits synovitis in the mouse model of post-traumatic osteoarthritis and alleviates pain
Published 2025-01-01“…Purpose: To investigate the pathological changes of the synovium in mice with post-traumatic osteoarthritis (PTOA) treated with 4-octyl itaconate (4-OI) and evaluate the therapeutic effects of 4-OI. Methods: In the phenotypic validation experiment, the mice were randomly divided into 3 groups: wild-type (WT) group, sham group, and destabilization of the medial meniscus (DMM) group. …”
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3986
Identification of Clusters in a Population With Obesity Using Machine Learning: Secondary Analysis of The Maastricht Study
Published 2025-02-01“…Data (2971 variables) included demographics, lifestyle, biomedical aspects, advanced phenotyping, and social factors (cohort 2010). The factor probabilistic distance clustering algorithm was applied in order to detect clusters within this high-dimensional data. …”
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3987
Distribution of Airway Findings in ANCA-Associated Vasculitis: A 20-Year Observational Analysis
Published 2024-12-01“…Future studies with enhanced phenotypic data and larger cohorts are warranted to improve predictive accuracy.…”
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3988
Resistome phylodynamics of multidrug-resistant Shigella isolated from diarrheal patients
Published 2025-01-01“…Clinical Shigella strains were screened for MDR phenotypes through susceptibility tests against 28 antibiotics from 10 different classes. …”
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3989
Clinical features and predictors of atrial fibrillation in patients with light‐chain or transthyretin cardiac amyloidosis
Published 2022-06-01“…Abstract Aims The study aimed to investigate the prevalence, phenotypic characteristics, and predictors of atrial fibrillation (AF) in patients presenting with cardiac amyloidosis (CA) of light‐chain (AL) or transthyretin (ATTR) type. …”
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3990
National monitoring of antibiotic resistance of pathogens causing community-acquired urinary tract infections in Russia: results of the multicenter epidemiological study «DARMIS -2...
Published 2024-09-01“…The rate of extended-spectrum beta-lactamase production based on phenotypic test results was 29.6% in the adult subpopulation; 23.6% in the pregnant subpopulation and 33.3% in the children and adolescents under 18 years of age subpopulation. …”
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3991
The HFA‐PEFF score identifies ‘early‐HFpEF’ phenogroups associated with distinct biomarker profiles
Published 2022-06-01“…Multinominal‐based clustering with latent class model using the HFA‐PEFF domain scores (functional, structural, and biomarker scores) as input was used to detect distinct phenotypic clusters. For each bootstrapping run, the 92 Olink proteins were analysed for their association with the identified phenogroups. …”
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3992
Innovación en sueño
Published 2024-10-01“…In addition, techniques such as cluster analysis are used to identify symptomatic patterns and phenotypes, which improves understanding of OSA pathophysiology and optimizes CPAP treatment.However, implementation of AI in hospitals faces technological, ethical, and legal barriers. …”
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3993
Exploring the Genotype-Environment Interaction in Sugar Beet (Beta vulgaris L.) Genotypes for Optimal Selection
Published 2024-11-01“…Methods: This research involved the cultivation of 18 sugar beet genotypes that encompassed 15 hybrids and three control varieties previously developed to enhance resistance against rhizomania, rhizoctonia, and cyst nematode diseases. Phenotypic evaluations were conducted over two consecutive crop years (2022 and 2023) at two agricultural research stations in Karaj, Alborz, Iran, and Kermanshah, Kermanshah, Iran, utilizing a randomized complete block design with four replications. …”
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3994
Grain Yield Stability Analysis of Lentil Genotypes by AMMI Indices
Published 2024-11-01“…In addition, to maximize yield and control phenotypic expression, breeders must select specific genotypes that are stable or adapted to a specific environment. …”
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3995
Screening of Genes Related to Resistance to Bacterial Leaf Blight in Oryza officinalis by using RNA-seq Technology
Published 2024-11-01“…【Methods】Two isolates of Xanthomonas oryzae pv. oryzae CX28-3 and PXO99 were inoculated to 38 O. officinalis wild rice materials of 6 populations (Ⅰ-Ⅵ) from Yunnan Province, and different resistance phenotypes were evaluated. The highly resistant and susceptible populations were selected for transcriptome sequencing. …”
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