Showing 901 - 920 results of 2,988 for search '"Mutation"', query time: 0.07s Refine Results
  1. 901

    Central Retinal Vein Occlusion with Therapeutic Level of Anticoagulation by Sarwat Salim, Wai-Ching Lam, Wahid Hanna

    Published 2009-01-01
    “…To describe a patient with two episodes of deep venous thrombosis and factor V Leiden mutation who presented with central retinal vein occlusion (CRVO) despite prophylactic use of warfarin sodium (Coumadin). …”
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    Article
  2. 902

    Creation of body color mutants by CRISPR/Cas9 gene editing in largemouth bass, Micropterus salmoides by Lina Sun, Tian Gao, Zhiqiang Li, Xiaolong Yang, Zuliang Qin, Mingxiao Ye, Ying Li, Feilong Wang, Deshou Wang

    Published 2025-03-01
    “…Enzyme-digestion and sanger-sequencing demonstrated that the CRISPR/Cas9 system is available for the gene editing of LMB. The tyrb mutation resulted in reduced melanin and even albinism in eye and body of larvae, while the csf1ra mutation led to reddish body color, reduced xanthophores and melanophores in juvenile and adult fish with high mutation rate. …”
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    Article
  3. 903

    Genetic characteristics of influenza A and B viruses circulating in Russia in 2019–2023 by Svetlana B. Yatsyshina, Anna A. Artamonova, Maria A. Elkina, Anna V. Valdokhina, Victoria P. Bulanenko, Aleksandra A. Berseneva, Vasily G. Akimkin

    Published 2024-12-01
    “…No oseltamivir and zanamivir resistance mutations in NA were detected in all tested influenza A(H3N2) and B viruses. …”
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    Article
  4. 904

    Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum by Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz

    Published 2012-01-01
    “…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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    Article
  5. 905

    Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy by Hilde Fiskvik, Anne F. Jacobsen, Nina Iversen, Carola E. Henriksson, Eva-Marie Jacobsen

    Published 2021-01-01
    “…Characterization of the AT mutation may aid in the decision-making process and optimize pregnancy outcomes.…”
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    Article
  6. 906

    Comparison of the Effect of Various Types of Genetic Algorithm Operators on the Total Amount of Tardiness in Flow Shop Problem by Morteza Rasti Barzoki, Sajjad Raeisi

    Published 2022-09-01
    “…The purpose of this paper is to investigate the effect of crossover and mutation operators of the genetic algorithm on the objective of minimizing total amount of tardiness in permutation FSSP in order to determine more suitable ones to be applied in the problem. …”
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    Article
  7. 907

    Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant by Muhammad Husnain, Trent Wang, Maikel Valdes, James Hoffman, Lazaros Lekakis

    Published 2019-01-01
    “…ANKRD26 mutation has been previously associated with myeloid malignancies, including acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. …”
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  8. 908

    Solmisationssysteme in El cantor instruido von Manuel Cavaza. Ein Fallbeispiel zur Methodenvielfalt im 18. Jahrhundert by Luis Ramos

    Published 2021-06-01
    “…In addition to Guidonian solmization with hexachords and mutations, he presents two methods without mutation as well as a kind of “moveable do” system using key simulation. …”
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    Article
  9. 909

    Atypical Myocardial Infarction with Apical Thrombus and Systemic Embolism: A Rare Presentation of Likely JAK2 V617F-Positive Myeloproliferative Neoplasm by Muhammed Atere, Rana Al-Zakhari, Jennifer Collins, Francesco Rotatori, Lloyd Muzangwa

    Published 2020-01-01
    “…The prevalence of JAK2 mutation is low in the general population but higher in patients with myeloproliferative neoplasms. …”
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    Article
  10. 910

    The Precompression Processing of LMS Algorithm in Noise Elimination by Pengfei Lin, Chunsheng Lin, Ning Zhang, Xingya wu

    Published 2019-01-01
    “…The improved algorithm can eliminate the influence of input signal mutation on the filter performance. In the numerical simulations, we compare the improved LMS algorithm and NLMS algorithm in the cases of normal input signal and input signal with mutation and the influence of different regulator factors on the noise elimination. …”
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    Article
  11. 911

    Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

    Published 2025-01-01
    “…WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. …”
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  12. 912

    Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

    Published 2020-01-01
    “…Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. …”
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    Article
  13. 913

    Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis by Shiyue Ma, Lingjian Tang, Chaoli Wu, Hui Tang, Xue Pu, Jinhong Niu

    Published 2022-01-01
    “…The family members of the respective patients presented mutations in major genes causing HS. The Leu2032Pro mutation identified in patient III-1 is a new missense mutation of the SPTB gene in the Chinese population that has never been reported in literature previously. …”
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    Article
  14. 914

    An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation by Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu

    Published 2018-01-01
    “…A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. …”
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    Article
  15. 915

    Faking the News: Intentional Guided Variation Reflects Cognitive Biases in Transmission Chains Without Recall by Stubbersfield Joseph, Tehrani Jamshid, Flynn Emma

    Published 2018-07-01
    “…Two potential forms of mutation in cultural evolution have been identified: ‘copying error’, where learners make random modifications to a behaviour and ‘guided variation’ where learners makes non-random modifications. …”
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  16. 916

    Paroxysmal Nonkinesigenic Dyskinesia with Tremor by Robert Fekete

    Published 2013-01-01
    “…Genetic diagnosis was confirmed via A7V mutation of the myofibrillogenesis regulator (MR-1) gene. …”
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  17. 917

    The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness by Kristina Narfström, Koren Holland Deckman, Marilyn Menotti-Raymond

    Published 2011-01-01
    “…The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. …”
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  18. 918

    Q-Learning-Driven Butterfly Optimization Algorithm for Green Vehicle Routing Problem Considering Customer Preference by Weiping Meng, Yang He, Yongquan Zhou

    Published 2025-01-01
    “…In order to improve the overall optimization ability of the algorithm, enhance the optimization accuracy, and prevent the algorithm from falling into a local optimum, the Gaussian mutation mechanism with dynamic variance was introduced, and the migration mutation mechanism was also used to enhance the population diversity of the algorithm. …”
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  19. 919

    A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever by Sevket Ozkaya, Saliha E. Butun, Serhat Findik, Atilla Atici, Adem Dirican

    Published 2013-01-01
    “…The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L) gene mutation in both our patient and his grandchild. …”
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    Article
  20. 920

    Rapid Evaluation of Mutant Exon-11 in c-kit in a Recurrent MCT Case Using CD117 Immunocytofluorescence, FACS-Cell Sorting, and PCR by Dettachai Ketpun, Achariya Sailasuta, Prapruddee Piyaviriyakul, Nattawat Onlamoon, Kovit Pattanapanyasat

    Published 2013-01-01
    “…Therefore, fine-needle aspiration (FNA) was performed to collect the MCT cells and these cells were submitted to our laboratory for the detection of internal-tandem-duplicated (ITD) mutation of exon-11 in c-kit, prior to the treatment. …”
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    Article