検索結果 - Jonathan Talbot-Martin

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  1. 1
    Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

    Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes 著者: Nechama Wieder, Elston N. D’Souza, Alexandra C Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia Chothani, Owen J. L. Rackham, Sebastian Schäfer, Julie L. Aspden, Daniel G. MacArthur, R. W. Davies, Nicola Whiffin

    出版事項 2024
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    Artigo
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  2. 2
    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease 著者: Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah K. Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily E. Anderson, Toby Candler, Helen V. Firth, Christopher B. Burge, Stephan Sanders, Jamie M. Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin

    出版事項 2025
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    Artigo
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