檢索結果 - Dirk Klee

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  1. 1
    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease 由 Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    出版 2014
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    Carta
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  2. 2
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 由 Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

    出版 2015
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    Artigo
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  3. 3
    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood 由 Laura S. Kremer, Katharina Danhauser, Diran Herebıan, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Annette Seibt, Wolfgang Müller‐Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik T. Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo Barić, Felix Distelmaier, Holger Prokisch

    出版 2016
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    Artigo
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  4. 4
    Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration

    Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration 由 Markus N. Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit Budde, Michele Bonus, Mohammad R. Toliat, Christopher Pfleger, Janine Altmüller, Diran Herebıan, Mila Beyer, Helge J. Zöllner, Hans‐Jörg Wittsack, Jörg Schaper, Dirk Klee, Ulrich Zechner, Peter Nürnberg, Jörg Schipper, Alfons Schnitzler, Holger Gohlke, Birgit Lorenz, Dieter Häussinger, Hanno J. Bolz

    出版 2019
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    Artigo
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  5. 5
    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations 由 Lucia Laugwitz, Fubo Cheng, Stephan C. Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung‐Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stéphanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizi Malamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, A Ghamari Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Rieß, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B. Haack

    出版 2024
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    Artigo
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