Showing 61 - 80 results of 2,988 for search '"mutation"', query time: 0.05s Refine Results
  1. 61
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    Cancer Is to Embryology as Mutation Is to Genetics: Hypothesis of the Cancer as Embryological Phenomenon by Jaime Cofre, Eliana Abdelhay

    Published 2017-01-01
    “…Despite numerous advances in cell biology, genetics, and developmental biology, cancer origin has been attributed to genetic mechanisms primarily involving mutations. Embryologists have expressed timidly cancer embryological origin with little success in leveraging the discussion that cancer could involve a set of conventional cellular processes used to build the embryo during morphogenesis. …”
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  3. 63

    The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome by Min Xu, Yujie Shi, Li Lin, Liang Wang, Xianzhong Zhu, Jinglin Xiong, Jiawen Yin, Qing Qi, Wenlin Yang

    Published 2025-01-01
    “…After rigorous screening, we included 162 patients with NS-associated symptoms and SPINK5 mutations. We characterized the distribution and mutation types of allele variants. …”
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  4. 64

    Birt-Hogg-Dubé Syndrome: Report of a New Mutation by Habib U Rehman

    Published 2012-01-01
    “…Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. …”
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  5. 65

    Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation by Imad Fadl-Elmula, Rania Giha, Sawsan AH Deaf, Lamyaa Ahmed El Hassan, Ahmed M. Hassan, Mohamed AR Arbab

    Published 2017-09-01
    “…Genomic DNA was extracted and mutation analysis for INI1 gene using primer of exon 4, 5, 7, and 9 showed mutation involving exon 9. …”
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  6. 66

    Configurations, deformations, mutations. Criteria of morphological analysis in adaptive reuse by Elena Guidetti, Alessandro Massarente

    Published 2021-06-01
    “…Therefore, starting from the hypothesis that a building whose original function has mutated can no longer be characterized through it, but rather through the permanence of its form, we intend to demonstrate that a project of adaptive reuse of a pre-existing building implies a morphological potential through which it is possible to determine diversified cognitive approaches and transformation scenarios.…”
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  7. 67

    Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families by Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra

    Published 2015-01-01
    “…EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. …”
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  8. 68

    GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation by Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan

    Published 2016-01-01
    “…DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes. …”
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  9. 69

    An Improved Unscented Kalman Filter Algorithm for Radar Azimuth Mutation by Dazhang You, Pan Liu, Wei Shang, Yepeng Zhang, Yawei Kang, Jun Xiong

    Published 2020-01-01
    “…Last but not the least, the SVD-MUKF can achieve stable tracking of targets even in the case of angle mutation.…”
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    CHEK2∗1100delC Mutation and Risk of Prostate Cancer by Victoria Hale, Maren Weischer, Jong Y. Park

    Published 2014-01-01
    “…The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating that CHEK2∗1100delC mutation is associated with increased risk of prostate cancer. …”
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  13. 73
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    Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy by Feng Zhao, Yuan Liu, Tao Guan

    Published 2019-01-01
    “…No TGFBI gene mutations were detected in the 100 healthy controls. …”
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    The Clinicopathological Features of BRAF Mutated Papillary Thyroid Cancers in Chinese Patients by Li-Bo Yang, Lin-Yong Sun, Yong Jiang, Ying Tang, Zhi-Hui Li, Hong-Ying Zhang, Hong Bu, Feng Ye

    Published 2015-01-01
    “…The BRAFV600E mutation is commonly found in papillary thyroid cancers (PTCs) at different frequencies in different regions. …”
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    Elucidating the potential of EGFR mutated NSCLC and identifying its multitargeted inhibitors by Anakha D. Rajeeve, Ramasamy Yamuna, P. K. Krishnan Namboori

    Published 2025-01-01
    “…Abstract Lung cancer is the leading cause of cancer-related fatalities globally, accounting for the highest mortality rate among both men and women. Mutations in the epidermal growth factor receptor (EGFR) gene are frequently found in non-small cell lung cancer (NSCLC). …”
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  20. 80

    First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

    Published 2015-01-01
    “…However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. …”
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