Risultati della ricerca - 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 di 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

    Pubblicazione 2024
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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 di 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

    Pubblicazione 2025
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