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Material Type: Artigo
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care SystemLunke, Sebastian ; Eggers, Stefanie ; Wilson, Meredith ; Patel, Chirag ; Barnett, Christopher P ; Pinner, Jason ; Sandaradura, Sarah A ; Buckley, Michael F ; Krzesinski, Emma I ; de Silva, Michelle G ; Brett, Gemma R ; Boggs, Kirsten ; Mowat, David ; Kirk, Edwin P ; Adès, Lesley C ; Akesson, Lauren S ; Amor, David J ; Ayres, Samantha ; Baxendale, Anne ; Borrie, Sarah ; Bray, Alessandra ; Brown, Natasha J ; Chan, Cheng Yee ; Chong, Belinda ; Cliffe, Corrina ; Delatycki, Martin B ; Edwards, Matthew ; Elakis, George ; Fahey, Michael C ; Fennell, Andrew ; Fowles, Lindsay ; Gallacher, Lyndon ; Higgins, Megan ; Howell, Katherine B ; Hunt, Lauren ; Hunter, Matthew F ; Jones, Kristi J ; King, Sarah ; Kumble, Smitha ; Lang, Sarah ; Le Moing, Maelle ; Ma, Alan ; Phelan, Dean ; Quinn, Michael C J ; Richards, Anna ; Richmond, Christopher M ; Riseley, Jessica ; Rodgers, Jonathan ; Sachdev, Rani ; Sadedin, Simon ; Schlapbach, Luregn J ; Smith, Janine ; Springer, Amanda ; Tan, Natalie B ; Tan, Tiong Y ; Temple, Suzanna L ; Theda, Christiane ; Vasudevan, Anand ; White, Susan M ; Yeung, Alison ; Zhu, Ying ; Martyn, Melissa ; Best, Stephanie ; Roscioli, Tony ; Christodoulou, John ; Stark, ZornitzaJAMA : the journal of the American Medical Association, 2020-06, Vol.323 (24), p.2503-2511 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care SystemAustralian Genomics Health Alliance Acute Care Flagship ; Lunke, Sebastian ; Eggers, Stefanie ; Wilson, Meredith ; Patel, Chirag ; Barnett, Christopher P ; Pinner, Jason ; Sandaradura, Sarah A ; Buckley, Michael F ; Krzesinski, Emma I ; de Silva, Michelle G ; Brett, Gemma R ; Boggs, Kirsten ; Mowat, David ; Kirk, Edwin P ; Adès, Lesley C ; Akesson, Lauren S ; Amor, David J ; Ayres, Samantha ; Baxendale, Anne ; Borrie, Sarah ; Bray, Alessandra ; Brown, Natasha J ; Chan, Cheng Yee ; Chong, Belinda ; Cliffe, Corrina ; Delatycki, Martin B ; Edwards, Matthew ; Elakis, George ; Fahey, Michael C ; Schlapbach, Luregn JAmerican Medical Association (AMA) 2020-06Texto completo disponível |