Resultados de búsqueda - 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 por 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

    Publicado 2024
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    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 por 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

    Publicado 2025
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