Showing 1 - 4 results of 4 for search 'Sarah Donoghue', query time: 0.02s Refine Results
  1. 1
    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

    Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature by Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

    Published 2021-03-01
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  2. 2
    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome

    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

    Published 2024-01-01
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  3. 3
    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies by Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

    Published 2022-05-01
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  4. 4
    Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research

    Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research by Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn

    Published 2023-01-01
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