Hasil Pencarian - Emma S. Singer

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  1. 1
    Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

    Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit... oleh Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian

    Diterbitkan 2023-09-01
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  2. 2
    The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

    The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death oleh Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall

    Diterbitkan 2023-10-01
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  3. 3
    The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

    The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic oleh Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C. Isbister, Hariharan Raju, David Richmond, Mark P. Ryan, Emma S. Singer, Raymond W. Sy, Laura Yeates, Richard D. Bagnall, Christopher Semsarian, Jodie Ingles

    Diterbitkan 2022-12-01
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