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Journal Abstract Search

490 related items for PubMed ID: 33734897

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  • 5. Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
    Zamani GR, Mohammadi MF, Tavasoli AR, Ashrafi MR, Hosseinpour S, Ghabeli H, Pourbakhtyaran E, Haghighi R, Hosseiny SMM, Mohammadi P, Heidari M.
    J Mol Neurosci; 2022 May; 72(5):1098-1107. PubMed ID: 35218518
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  • 6. The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.
    Zamani G, Hosseini Bereshneh A, Azizi Malamiri R, Bagheri S, Moradi K, Ashrafi MR, Tavasoli AR, Mohammadi M, Badv RS, Ghahvechi Akbari M, Heidari M.
    J Mol Neurosci; 2020 Oct; 70(10):1565-1573. PubMed ID: 32436198
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  • 8. Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.
    Kong X, Zhong X, Liu L, Cui S, Yang Y, Kong L.
    BMC Med Genet; 2019 Aug 14; 20(1):139. PubMed ID: 31412794
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  • 9. Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
    Ozkalayci H, Bora E, Cankaya T, Kocabey M, Zubari NC, Yis U, Giray Bozkaya O, Turan S, Pekcanlar Akay A, Caglayan AO, Ulgenalp A.
    Neurogenetics; 2024 Jul 14; 25(3):201-213. PubMed ID: 38850354
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  • 12. EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY.
    Salian S, Vahab SA, Shah H, Shukla A, Ramamurthy B, Shenoy R, Kamath N, Shenoy J, Satyamoorthy K, Girisha KM.
    Genet Couns; 2016 Jul 14; 27(4):449-460. PubMed ID: 30226963
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  • 16. NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.
    Tang F, Xiao Y, Zhou C, Zhang H, Wang J, Zeng Y.
    BMC Med Genomics; 2023 May 30; 16(1):121. PubMed ID: 37254189
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  • 18. Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
    Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S, Puri RD, Verma IC.
    Indian J Pediatr; 2020 Jul 30; 87(7):495-504. PubMed ID: 32358784
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  • 19. MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study.
    Ansar Z, Nasir A, Moatter T, Khan S, Kirmani S, Ibrahim S, Imam K, Ather A, Samreen A, Hasan Z.
    Genet Test Mol Biomarkers; 2019 Jul 30; 23(7):468-472. PubMed ID: 31157985
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  • 20. Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
    Mohammed F, Elshafey A, Al-Balool H, Alaboud H, Al Ben Ali M, Baqer A, Bastaki L.
    PLoS One; 2018 Jul 30; 13(5):e0197205. PubMed ID: 29847600
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