Showing 1 - 7 results of 7 for search 'Irini Manoli', query time: 0.03s Refine Results
  1. 1
    P035: Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases

    P035: Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases by Jennifer Sloan, Irini Manoli, Charles Venditti

    Published 2023-01-01
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  2. 2
    A framework for the evaluation of patients with congenital facial weakness

    A framework for the evaluation of patients with congenital facial weakness by Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs

    Published 2021-04-01
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  3. 3
    The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report

    The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report by John G. Aversa, Francine Blumental De Abreu, Sho Yano, Liqiang Xi, Donald W. Hadley, Irini Manoli, Mark Raffeld, Samira M. Sadowski, Naris Nilubol

    Published 2020-03-01
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  4. 4
    Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

    Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9 by Randy J. Chandler, Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts, Irini Manoli, John A. Chiorini, Charles P. Venditti

    Published 2022-12-01
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  5. 5
    High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

    High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency by Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang

    Published 2020-01-01
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  6. 6
    ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia

    ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia by Petr O. Ilyinskii, Alicia M. Michaud, Gina L. Rizzo, Christopher J. Roy, Sheldon S. Leung, Stephanie L. Elkins, Teresa Capela, Aparajita Chowdhury, Lina Li, Randy J. Chandler, Irini Manoli, Eva Andres-Mateos, Lloyd P.M. Johnston, Luk H. Vandenberghe, Charles P. Venditti, Takashi Kei Kishimoto

    Published 2021-09-01
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  7. 7
    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

    Published 2017-07-01
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