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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Authors:Hernan D Gonorazky  Sergey Naumenko  Arun K Ramani  Viswateja Nelakuditi  Pouria Mashouri  Peiqui Wang  Dennis Kao  Krish Ohri  Senthuri Viththiyapaskaran  Mark A Tarnopolsky  Katherine D Mathews  Steven A Moore  Andres N Osorio  David Villanova  Dwi U Kemaladewi  Ronald D Cohn  Michael Brudno  James J Dowling
Institution:1. Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada;2. Centre for Computational Medicine, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada;3. Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada;4. Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada;5. Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA;6. Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA;7. Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona 08950, Spain;8. Center for the Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona 08950, Spain;9. GenomicTales Parc de la Mola, 10, AD700 Escaldes-Engordany, Andorra;10. Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada;11. Department of Computer Science, University of Toronto, Toronto, ON M5G 0A4, Canada
Abstract:
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