Sökresultat - Dawn Cordeiro
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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood av Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David F. Callen, Elizabeth Donner, Cecil D. Hahn, Pekka Kannus, Jeff Kobayashi, Berge A. Minassian, Mahendranath Moharir, Komudi Siriwardena, Shelly K. Weiss, Rosanna Weksberg, O. Carter Snead
Publicerad 2015Artigo -
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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy av Marianna Madeo, Michelle Stewart, Yuyang Sun, Nadia Sahir, Sarah Wiethoff, Indra Chandrasekar, Anna Yarrow, Jill A. Rosenfeld, Yaping Yang, Dawn Cordeiro, Elizabeth M. McCormick, Colleen Muraresku, Tyler Jepperson, Lauren McBeth, Mohammed Zain Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Hamid Azzedine, Karl J. Clark, Silvia Corrochano, Sara Wells, Mariet W. Elting, Marjan M. Weiss, Sabrina C. Burn, Angela Myers, Megan Landsverk, Patricia L. Crotwell, Quinten Waisfisz, Nicole I. Wolf, Patrick M. Nolan, Sergio Padilla-López, Henry Houlden, Richard P. Lifton, Shrikant Mane, Brij B. Singh, Marni J. Falk, Saadet Mercimek‐Mahmutoglu, Kaya Bilgüvar, Mustafa A. Salih, Abraham Acevedo‐Arozena, Michael C. Kruer
Publicerad 2016Artigo -
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test av Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
Publicerad 2017Artigo
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Internal medicine
Medicine
Biology
Epilepsy
Gene
Genetic testing
Genetics
Phenotype
AMPA receptor
Bioinformatics
Choreoathetosis
Computational biology
DNA sequencing
Disease
Dystonia
Encephalopathy
Excitatory postsynaptic potential
Exome
Exome sequencing
Genome
Glutamate receptor
Glutamatergic
Inhibitory postsynaptic potential
Loss function
Medical diagnosis
Movement disorders
Neuroscience
Neurotransmission
Pathology
Pediatrics