Hasil Pencarian - Alison G. Compton

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  1. 1
    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder oleh Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava

    Diterbitkan 2022-09-01
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  2. 2
    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 oleh 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

    Diterbitkan 2022-05-01
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  3. 3
    Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

    Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. oleh Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

    Diterbitkan 2013-01-01
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