نتائج البحث - Jiri Vajsar
- يعرض 1 - 6 نتائج من 6
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Walker-Warburg syndrome حسب Jiri Vajsar, Harry Schachter
منشور في 2006Revisão -
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Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant حسب Emma Clement, Caroline Godfrey, Jenny Tan, Martin Brockington, Silvia Torelli, Lucy Feng, S. Brown, C. Jimenez‐Mallebrera, Caroline A. Sewry, Cheryl Longman, R. Mein, Stephen Abbs, Jiri Vajsar, Harry Schachter, Francesco Muntoni
منشور في 2008Artigo -
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome حسب Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida‐Moriguchi, Daniel Beltrán Valero de Bernabé, David Venzke, Sebahattin Çirak, Harry Schachter, Jiri Vajsar, Thomas Voït, Francesco Muntoni, Andrea S Loder, William B. Dobyns, Thomas Winder, Sabine Strahl, Katherine D. Mathews, Stanley F. Nelson, Steven A. Moore, Kevin P. Campbell
منشور في 2012Artigo -
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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies حسب Ching H. Wang, Carsten G. Bönnemann, A. Rutkowski, Thomas Sejersen, Jonathan Bellini, Vanessa Battista, Julaine Florence, Ulrike Schara, Pamela M. Schuler, Karim Wahbi, A. Aloysius, Robert O. Bash, Christophe Béroud, Enrico Bertini, Kate Bushby, Ronald D. Cohn, Anne M. Connolly, Nicolas Deconinck, Isabelle Desguerre, Michelle Eagle, Brigitte Estournet-Mathiaud, Ana Ferreiro, Albert Fujak, Nathalie Goemans, Susan T. Iannaccone, Patricia Jouinot, Marion Main, Paola Melacini, Wolfgang Mueller‐Felber, Francesco Muntoni, Leslie Nelson, Jes Rahbek, Susana Quijano-Roy, Caroline A. Sewry, Kari Storhaug, Anita K. Simonds, Brian S. Tseng, Jiri Vajsar, Andrea Vianello, Reinhard Zeller
منشور في 2010Artigo -
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Acute flaccid myelitis: cause, diagnosis, and management حسب Olwen C. Murphy, Kevin Messacar, Lina Benson, Riley Bove, Jessica L. Carpenter, Thomas O. Crawford, Janet Dean, Roberta L. DeBiasi, Jay Desai, Matthew J. Elrick, Raquel Farias‐Moeller, Grace Gombolay, Benjamin Greenberg, Matthew Harmelink, Sue J. Hong, Sarah Hopkins, Joyce Oleszek, Catherine Otten, Cristina Sadowsky, Teri Schreiner, Kiran T. Thakur, Keith Van Haren, Carolina Carballo, Pin Fee Chong, Amary Fall, Vykuntaraju K. Gowda, Jelte Helfferich, Ryutaro Kira, Ming Lim, Eduardo López, Elizabeth Wells, E. Ann Yeh, Carlos A. Pardo, Andrea Salazar-Camelo, Divakar S. Mithal, Molly Wilson-Murphy, Andrea Bauer, Colyn J. Watkins, Mark J. Abzug, Samuel R. Dominguez, Craig A. Press, Michele Yang, Nusrat Ahsan, Leigh Ramos‐Platt, Emmanuelle Tiongson, Mitchel Seruya, Ann Tilton, Elana Katz, Matthew P. Kirschen, Apurva Shah, Erlinda R. Ulloa, Sabrina W. Yum, Lileth Mondok, Megan Blaufuss, Amy Rosenfeld, Wendy Vargas, Jason Zucker, Anusha K. Yeshokumar, Allison Navis, Kristen Chao, Kaitlin Hagen, Michelle Melicosta, Courtney Porter, Margaret A. Tunney, Richard H. Scheuermann, Priya Duggal, Andrew Pekosz, Amy J. Bayliss, Meghan Moore, Allan J. Belzberg, Melania M. Bembea, C. J. M. O’Brien, Rebecca Riggs, Jessica Nance, Aaron M. Milstone, Jessica L. Rice, Maria A. García‐Dominguez, Eoin P. Flanagan, Jan‐Mendelt Tillema, Glendaliz Bosques, Sonal Bhatia, Eliza Gordon‐Lipkin, Dawn Deike, Gadi Revivo, Dan A. Zlotolow, Gabrielle deFiebre, Peggy Lazerow, Timothy Lotze, Ari Bitnun, Kristen M. Davidge, Jiri Vajsar, Amy M. Moore, Chamindra G. Konersman, Kendall Nash, Jonathan B. Strober, Nalin Gupta, Charles Y. Chiu, Michael Sweeney, William T. Jackson, Dennis Simon
منشور في 2020Revisão
أدوات البحث:
موضوعات ذات صلة
Medicine
Congenital muscular dystrophy
Internal medicine
Biology
Dystroglycan
Gene
Genetics
Laminin
Muscular dystrophy
Pediatrics
Cell
Mutation
Phenotype
Physical therapy
Apnea
Cardiology
Clinical Practice
Cohort
Complementation
Diffusing capacity
Disease
Environmental health
Extracellular matrix
Family medicine
Hypotonia
Hypoventilation
Law
Limb-girdle muscular dystrophy
Lissencephaly
Loss function