Showing 81 - 100 results of 3,943 for search '"mutation"', query time: 0.06s Refine Results
  1. 81
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    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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    Article
  3. 83

    Le « lâcher-prise » : mutations numériques des gestes architecturaux by Sébastien Bourbonnais

    Published 2017-09-01
    “…It is also possible to identify a mutation of the design gesture, among some architects, which offer them a new “grasp” on the generation of objects and projects. …”
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  4. 84

    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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  8. 88
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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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  14. 94

    Poorly differentiated thyroid cancer: Clinical, pathological, mutational, and outcome analysis by Amit Agarwal, Nelson George, Niraj Kumari, Narendra Krishnani, Prabhaker Mishra, Sushil Gupta

    Published 2024-12-01
    “…RAS was the frequent mutation detected. It is worthwhile to identify prognostic factors that can predict the course of PDTC.…”
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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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  18. 98

    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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    Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation by Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo

    Published 2018-01-01
    “…Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. …”
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    Article