Результаты поиска - Adel Mahmoud

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Отмена результатов
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    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy по Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A.A.P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura Schultz‐Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor‐Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    Опубликовано 2020
    Полный текст Полный текст
    Artigo
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    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia по Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin

    Опубликовано 2019
    Полный текст Полный текст
    Artigo