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    Eva M Carmona-Porquera
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    Journal Articles

    Natural History and Predictors of Survival in Adult Patients with Telomere Biology Disorders

    Enrica Quattrocchi, Eva M. Carmona Porquera, Alejandro Diaz Arumir Vergara, Ana C. Zamora, Laura Ongie, Kristen B. McCullough, Brittany Burnap, Jenna A. Fernandez, Doug A. Simonetto, Patrick S. Kamath, Avni Joshi, Mark E. Wylam, Cassie C. Kennedy, Terra L. Lasho, Christy Finke, Rachel A. Simon, Mrinal M. Patnaik, Alejandro Ferrer, Abhishek A. Mangaonkar
    Journal: Blood
    Blood (2024) 144 (Supplement 1): 1326.
    https://doi.org/10.1182/blood-2024-210391
    Published: 2024
    Journal Articles

    Functional Testing of Variants of Uncertain Significance in TERC, TERT ,and RTEL1 from Adult Patients with Telomere Biology Disorders

    Rachel A Simon, Christy M Finke, Terra L Lasho, Christopher T. Schmitz, Jenna A Fernandez, Eva M Carmona-Porquera, Mark E Wylam, Thomas E. Witzig, Tammy M McAllister, Carolyn R. Rohrer Vitek, Konstantinos N Lazaridis, Abhishek A Mangaonkar, Mrinal M. Patnaik, Alejandro Ferrer
    Journal: Blood
    Blood (2023) 142 (Supplement 1): 1365.
    https://doi.org/10.1182/blood-2023-190153
    Published: 2023

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