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10661
Diverse Linguistic Development in Prelingually Deaf Children with Cochlear Implants
Published 2019-01-01“…We report 4 prelingually deaf children (mean age=10.5; SD=1.08), affected by a genetically determined bilateral deafness, due to GJB2 gene mutation Cx26. …”
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10662
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene
Published 2024-01-01“…Next-generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. …”
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10663
Insights from a Genome-Wide Study of <i>Pantoea agglomerans</i> UADEC20: A Promising Strain for Phosphate Solubilization and Exopolysaccharides Production
Published 2025-01-01“…These findings suggest a unique genetic background in the <i>P</i>. <i>agglomerans</i> UADEC20 strain.…”
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10664
In Silico Genome Comparison and Distribution Analysis of Simple Sequences Repeats in Cassava
Published 2014-01-01“…The identified SSRs here may be a valuable addition for genetic mapping and future studies in phylogenetic analyses and genomic evolution.…”
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10665
Pontocerebellar hypoplasia: clinical case and literature review
Published 2019-09-01“…To confirm the diagnosis of PCH2A, genetic analysis is required detecting homozygous missense mutation in the TSEN54 gene. …”
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10666
The OAuth 2.0 Web Authorization Protocol for the Internet Addiction Bioinformatics (IABio) Database
Published 2016-03-01“…In addition, bioinformatics databases, especially genetic databases, require a high level of security and should be designed based on medical information standards. …”
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10667
Rational engineering of minimally immunogenic nucleases for gene therapy
Published 2025-01-01“…Abstract Genome editing using CRISPR-Cas systems is a promising avenue for the treatment of genetic diseases. However, cellular and humoral immunogenicity of genome editing tools, which originate from bacteria, complicates their clinical use. …”
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10668
AMPK regulates the maintenance and remodelling of the neuromuscular junction
Published 2025-01-01“…Method: A comprehensive, multifaceted approach was employed, integrating genetic, physiological, and pharmacological methodologies to elucidate the role of skeletal muscle AMPK in modulating the neuromuscular synapse. …”
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10669
Collagenous Sprue
Published 2011-01-01“…Future studies are needed to more precisely define molecular and genetic biomarkers that identify homogeneous groups and permit the development of improved treatment strategies for this increasingly recognized disorder.…”
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10670
SAA3 deficiency exacerbates intestinal fibrosis in DSS-induced IBD mouse model
Published 2025-01-01“…Our results further indicated that SAA3 genetic disruption in fibroblasts enhanced cell activation to myofibroblasts through HSPB1/NF-κB/TGF-β1/Smads signaling cascade, exacerbating the pathological phenotype of intestinal fibrosis. …”
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10671
Comparative Study of Dual-Rotor Permanent Magnet Machines with Series and Parallel Magnetic Circuits
Published 2024-12-01“…The machines are optimized using the finite element analysis (FEA) based on the genetic algorithm. It shows that the PDRPM machine with the tooth coil (TC) configuration has the highest permanent magnet (PM) utilisation compared to the PDRPM with toroidal winding (TW) configuration and the SDRPM machine with the TC configuration under different slot/pole number combinations. …”
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10672
Oligonucleotides as a Novel Therapeutic Approach: An Innovative Area for Drug Delivery in Neurological Disorders
Published 2025-01-01“…Ongoing preclinical and clinical studies are assessing the safety and efficacy of Antisense Oligonucleotide) ASOs (in multiple genetic and acquired neurological conditions. The current review provides an update on novel approaches, preclinical, clinical evidence, and delivery route of ASOs. …”
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10673
Risk factors in pediatric asthmatic patients. Cases and control studies.
Published 2003-04-01“…<strong><br />Conclusions: </strong>It is conclusive that the exposure to home allergen plus a genetic favorable factor, the prematurity, and brochiolitis constituted the most outstanding elements to suffer from asthma in the population studied.…”
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10674
The Impact of Farnesoid X Receptor Activation on Intestinal Permeability in Inflammatory Bowel Disease
Published 2012-01-01“…Recent studies have identified a number of factors that contribute to development of IBD including environmental triggers, genetic factors, immunoregulatory defects and microbial exposure. …”
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10675
An Improved Multiobjective Algorithm: DNSGA2-PSA
Published 2018-01-01“…To improve the diversity and decrease execution time of the nondominated sorting genetic algorithm II (NSGA-II), an improved algorithm is presented in this paper, which adopts a new vector ranking scheme to decrease the whole runtime and utilize Part and Select Algorithm (PSA) to maintain the diversity. …”
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10676
Cellular Harmony Search for Optimization Problems
Published 2013-01-01“…The main rationale behind this is to provide a high level of diversity to overcome the genetic drift. Cellular automata concepts have been embedded to the process of EA in order to provide a decentralized method in order to preserve the population structure. …”
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10677
Variation of the seed and foliar phenolic contents of five wild forms of common bean (Phaseolus vulgaris L.)
Published 2025-01-01“…Wild species are important for the conservation of biodiversity, and for the genetic improvement of new varieties. Likewise, they could be used as forage, food or medicine, due to the high content of phytochemicals in seeds and leaf tissue, therefore, the information generated is relevant to knowledge about the characterization and diversity of wild Phaseolus species. …”
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10678
Defective homologous recombination and genomic instability predict increased responsiveness to carbon ion radiotherapy in pancreatic cancer
Published 2025-01-01“…We utilized a panel of human PDAC cell lines with diverse genetic profiles to determine their sensitivity to CIRT compared to γ-rays, assessing relative biological effectiveness (RBE) at 10% survival, which ranged from 1.96 to 3.04. …”
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10679
Progress in immune microenvironment, immunotherapy and prognostic biomarkers in pediatric osteosarcoma
Published 2025-01-01“…It examines the impact of immune checkpoints, genetic mutations, and inflammatory pathways on osteosarcoma progression, highlighting their contribution to tumor immune evasion and disease advancement. …”
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10680
Multiobjective Multistate System Preventive Maintenance Model with Human Reliability
Published 2021-01-01“…A customised version of the nondominated sorting genetic algorithm III is employed to ensure efficient solution of the PM model with human reliability—which is considered a constrained multiobjective combinatorial optimisation problem. …”
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