Hasil Pencarian - Richard Rodenburg

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  1. 1
    Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

    Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report oleh Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Anja Seelhöfer, Stephan Rust, Astrid Jeibmann, Michael Frosch, Thorsten Marquardt

    Diterbitkan 2021-04-01
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  2. 2
    CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

    CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers oleh Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung

    Diterbitkan 2024-03-01
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  3. 3
    m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

    m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity oleh Teun M. Klein Gunnewiek, Eline J.H. Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M. Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J. Nelson, Eva Morava, Nael Nadif Kasri, Tamas Kozicz

    Diterbitkan 2020-04-01
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  4. 4
    Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice

    Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice oleh Taolin Yuan, Surinder Kumar, Mary E. Skinner, Ryan Victor-Joseph, Majd Abuaita, Jaap Keijer, Jessica Zhang, Thaddeus J. Kunkel, Yanghan Liu, Elyse M. Petrunak, Thomas L. Saunders, Andrew P. Lieberman, Jeanne A. Stuckey, Nouri Neamati, Fathiya Al-Murshedi, Majid Alfadhel, Johannes N. Spelbrink, Richard Rodenburg, Vincent C.J. de Boer, David B. Lombard

    Diterbitkan 2024-06-01
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  5. 5
    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease oleh Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

    Diterbitkan 2024-01-01
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  6. 6
    Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

    Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape oleh Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung

    Diterbitkan 2023-03-01
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