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收藏A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines
Kuo, Olivia; Molloy, Kevin; Sabir, Ataf; Fleming, Andrew; Edwards, Matthew; Morris-Rosendahl, Deborah; Fassihi, Hiva; Preston, Philip
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收藏Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Fleming, Andrew; Galey, Miranda; Briggs, Lizi; Edwards, Matthew; Hogg, Claire; John, Shibu; Wilkinson, Sam; Quinn, Ellie; Rai, Ranjit; Burgoyne, Tom; Rogers, Andy; Patel, Mitali P.; Griffin, Paul; Muller, Steven; Carr, Siobhan B.; Loebinger, Michael R.; Lucas, Jane S.; Shah, Anand; Jose, Ricardo; Mitchison, Hannah M.; Shoemark, Amelia; Miller, Danny E.; Morris-Rosendahl, Deborah J.
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收藏Combined approaches including long-read sequencing address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Morris-Rosendahl, Deborah; Fleming, Andrew; Galey, Miranda; Briggs, Lizi; Hogg, Claire; Edwards, Matthew; John, Shibu; Wilkinson, Sam; Quinn, Ellie; Rai, Ranjit; Burgoyne, Tom; Rogers, Andy; Patel, Mitali; Griffin, Paul; Muller, Steven; Carr, Siobhan; Loebinger, Michael; Lucas, Jane; Shah, Anand; Jose, Ricardo; Mitchison, Hannah; Shoemark, Amelia; Miller, Danny
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收藏Increasing the diagnostic yield in Primary Ciliary Dyskinesia via whole gene sequencing
Briggs, Lizi; Brandao, Catia; Fleming, Andrew; Edwards, Matthew; Muller, Steven; Quinn, Ellen; Sam, Wilkinson; Rogers, Andrew; Rai, Ranjit; Burgoyne, Thomas; Carr, Siobahn; Hogg, Claire; Jose, Ricardo; Loebinger, Michael; Shoemark, Amelia; Mitchinson, Hannah M.; John, Shibu; Morris-Rosendahl, Deborah
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收藏DISEASE PENETRANCE IN ASYMPTOMATIC CARRIERS OF FAMILIAL CARDIOMYOPATHY VARIANTS
Mahmood, Adil; Morris-Rosendahl, Deborah; Edwards, Matthew; Fleming, Andrew; Homfray, Tessa; Mason, Samantha; Quinn, Ellie; Ware, James; Baksi, John; Prasad, Sanjay; Pantazis, Antonis; Halliday, Brian
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收藏Soft Pneumatic Actuators: A Review of Design, Fabrication, Modeling, Sensing, Control and Applications软气动执行器: 设计,制造,建模,传感,控制和应用综述
Xavier, Matheus S.; Tawk, Charbel D.; Zolfagharian, Ali; Pinskier, Joshua; Howard, David; Young, Taylor; Lai, Jiewen; Harrison, Simon M.; Yong, Yuen K.; Bodaghi, Mahdi; Fleming, Andrew J.
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