Výsledky vyhledávání - David Bearden

  • Zobrazuji výsledky 1 - 10 z 10
Upřesnit hledání
  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
  6. 6
  7. 7
  8. 8

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Autor 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

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
  9. 9

    Neuromuscular disease genetics in under-represented populations: increasing data diversity Autor Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine Schon, Rodrigo Siqueira Soares Frezatti, Sharika Raga, K. Satyam Naidu, Özlem Yayıcı Köken, İpek Polat, Musambo M Kapapa, Natalia Dominik, Stéphanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J.L.F. Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina Trainor, Elizabeth Steyn, Amokelani C. Mahungu, Patrick J. van der Vliet, Ahmet Cevdet Ceylan, Semra Hız Kurul, Büşranur Çavdarlı, Cavidan Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik Bharadwaj Tallapaka, Periyasamy Govindaraj, Silvère M. van der Maarel, Narayanappa Gayathri, Bevinahalli N. Nandeesh, Somwe Wa Somwe, David Bearden, Michelle Kvalsund, Gita Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sárközy, Enrico Bugiardini, Franclo Henning, Jo M. Wilmshurst, Jeannine M. Heckmann, Robert McFarland, Robert W. Taylor, Izelle Smuts, Francois H. van der Westhuizen, Cláudia Ferreira da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M.V. Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y. Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horváth, Patrick F. Chinnery, Robert D. S. Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcová, Mary M. Reilly, Michael G. Hanna

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
  10. 10

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay Autor Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    Vydáno 2017
    Získat plný text
    Artigo

Vyhledávací nástroje: