Arama Sonuçları - Corien Verschuuren

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  1. 1
    Variants in <i>SLC18A3</i> , vesicular acetylcholine transporter, cause congenital myasthenic syndrome

    Variants in <i>SLC18A3</i> , vesicular acetylcholine transporter, cause congenital myasthenic syndrome Yazar: Gina O’Grady, Corien Verschuuren, Michaela Yuen, Richard Webster, Manoj P. Menezes, Johanna M. Fock, Natalie A. Pride, Heather Best, Tatiana Benavides Damm, Christian Turner, Monkol Lek, Andrew G. Engel, Kathryn N. North, Nigel F. Clarke, Daniel G. MacArthur, Erik-Jan Kamsteeg, Sandra T. Cooper

    Baskı/Yayın Bilgisi 2016
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  2. 2
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia Yazar: Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    Baskı/Yayın Bilgisi 2019
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  3. 3
    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... Yazar: Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

    Baskı/Yayın Bilgisi 2020
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