Resultats de la cerca - Mena Abdelsayed
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1
Voltage-gated sodium channels per Mena Abdelsayed, S. D. Sokolov
Publicat 2013Revisão -
2
Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy per Irina Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline W Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sárközy, L. D'Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R. Davis, Lucy Feng, Rahul Phadke, Caroline A. Sewry, Jennifer E. Morgan, Nigel G. Laing, Hilary Vallance, Peter C. Ruben, Michael G. Hanna, M. E. Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni
Publicat 2015Artigo -
3
Exome Sequencing and the Management of Neurometabolic Disorders per Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek
Publicat 2016Artigo
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Matèries relacionades
Biology
Medicine
Gene
Genetics
Bioinformatics
Biopsy
Cardiology
Chemistry
Computational biology
Congenital myopathy
Disease
Epilepsy
Exome
Exome sequencing
Hypokinesia
Intellectual disability
Internal medicine
Lacosamide
Loss function
Messenger RNA
Muscle biopsy
Mutation
Myopathy
NAV1
Neuroscience
Organic chemistry
Pathology
Pharmacology
Phenotype
Psychiatry