Showing 421 - 440 results of 1,417 for search '"genetics"', query time: 0.05s Refine Results
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    Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

    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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    Article
  9. 429

    Genome-wide association study of the antibody response to <i>Corynebacterium pseudotuberculosis</i> in sheep by J. Kyselová, L. Tichý, J. Marková, A. Gurgul, Z. Sztankóová, K. Vališ, S. Šlosárková, K. Kavanová, M. Beinhauerová, T. Szmatola, T. Szmatola

    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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    Article
  10. 430

    A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

    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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    Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging by Erkan Cagliyan, Samican Ozmen, Sureyya Saridas Demir, Ceren Aydin, Egehan Bilen, Handan Guleryuz, Elif Yasar, Derya Ercal, Elcin Bora, Tufan Cankaya

    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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  14. 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 by De Meeûs, Thierry, Noûs, Camille

    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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  15. 435

    Preliminary exploration of mRNA, lncRNA, and miRNA expressions in the bovine jejunum unveils novel aspects of Mycobacterium avium subspecies paratuberculosis infections by Yahui Gao, Jie Cao, Bo Han, Dongxiao Sun

    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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    Smith's Recognizable Patterns of Human Malformation / by Jones, Kenneth Lyons, Jones, Marilyn C.

    Published 2013
    Table 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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