Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth Lim-Melia"'
Autor:
Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish
Publikováno v:
Brain
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP
Autor:
Michisuke Yuzaki, Ramzi Nasir, R. Sean Hill, Joan M. Stoler, L. Benjamin Hills, Elizabeth Lim-Melia, Kotaro Konno, Nandini Chandy, Wataru Kakegawa, Ganeshwaran H. Mochida, Amira Masri, A. James Barkovich, Masahiko Watanabe, Jennifer N. Partlow, Muna Al-Saffar, Anh Thu N. Lam
Publikováno v:
Neurology, vol 81, iss 16
ObjectiveTo identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities.MethodsWe identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac68d0b11dfdb70723cf03688a9df0b
https://europepmc.org/articles/PMC3806907/
https://europepmc.org/articles/PMC3806907/
Autor:
Melissa P. Wasserstein, Claude Sansaricq, Kimiyo Raymond, Elizabeth Lim-Melia, George A. Diaz, Alexandra E. Larkin, Peter J. Mc Guire
Over 27 cases of liver transplant, kidney transplant and combined liver–kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver–kidney transplant (CLKT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0be33571d5efc2e03ba17be389bbf12
https://europepmc.org/articles/PMC2786260/
https://europepmc.org/articles/PMC2786260/
Autor:
Tasnee Chonmaitree, Kokab Saeed, Constance D. Baldwin, Elizabeth Lim-Melia, David P. McCormick
Publikováno v:
The Pediatric infectious disease journal. 19(3)