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Editorial: Global advances in the diagnosis, management, and treatment of low back pain
Published 2025-02-01Get full text
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Magnetic susceptibility components reveal different aspects of neurodegeneration in alpha-synucleinopathies
Published 2025-02-01Get full text
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425
Flowering characteristics and breeding system of Deutzia parviflora
Published 2025-01-01Get full text
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426
Site-selective dimethylation of flavonoids using fusion flavonoid O-methyltransferases
Published 2025-02-01Get full text
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study
Published 2025-02-01“…Conclusions In this study of patients with clinically diagnosed SMA, 2 cases with genetic SMN types were identified that would not have been identified through current genetic testing, which examines SMN1 deletions only. …”
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429
Genome-wide association study of the antibody response to <i>Corynebacterium pseudotuberculosis</i> in sheep
Published 2025-02-01“…This research provides insights into the genetic basis of the antibody response to <i>C. pseudotuberculosis</i>, identifying suggestive associations and underlying biological mechanisms that could guide future breeding and genetic strategies for improving resistance to CLA in sheep.…”
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430
A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
Published 2025-02-01“…Materials and methods The family underwent a clinical assessment of intellectual development, which included precise clinical exome sequencing to identify causative genetic variants. The potential deleterious effects and pathogenicity of the variant were predicted using bioinformatics tools such as Mutation Taster, PROVEAN, and SIFT. …”
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UV-induced reorganization of 3D genome mediates DNA damage response
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432
Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy
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433
Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging
Published 2022-12-01“…This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. …”
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434
A new and almost perfectly accurate approximation of the eigenvalue effective population size of a dioecious population: comparisons with other estimates and detailed proofs
Published 2023-05-01“…The effective population size is an important concept in population genetics. It corresponds to a measure of the speed at which genetic drift affects a given population. …”
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435
Preliminary exploration of mRNA, lncRNA, and miRNA expressions in the bovine jejunum unveils novel aspects of Mycobacterium avium subspecies paratuberculosis infections
Published 2025-02-01“…This study provided a valuable resource for understanding the molecular basis of JD, potentially contributing to the genetic improvement of JD resistance in dairy cattle.…”
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Central precocious puberty associated with duplicated pituitary: a case report and literature review
Published 2025-02-01Get full text
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Chrysene alters the expression pattern of HSP70 genes in mandarin fish
Published 2025-01-01Get full text
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440
Smith's Recognizable Patterns of Human Malformation /
Published 2013Table of Contents: “…Recognizable patterns of malformation -- Morphogenesis and dysmorphogenesis -- Genetics, genetic counseling, and prevention -- Minor anomalies : clues to more serious problems and to the recognition of malformation syndromes -- Normal standards.…”
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