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Author/Creator Emes, Richard D

1. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Issue 1 (7th November 2013)

Authors:
Onoufriadis, Alexandros; Shoemark, Amelia; Munye, Mustafa M; James, Chela T; Schmidts, Miriam; Patel, Mitali; Rosser, Elisabeth M; Bacchelli, Chiara; Beales, Philip L; Scambler, Peter J; Hart, Stephen L; Danke-Roelse, Jeannette E; Sloper, John J; Hull, Sarah; Hogg, Claire; Emes, Richard D; Pals, ...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
61
Record Type:
Journal Article
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2. Combined influence of gene-specific cord blood methylation and maternal smoking habit on birth weight. (February 2013)

Authors:
Haworth, Kim E; Farrell, William E; Emes, Richard D; Ismail, Khaled MK; Carroll, William D; Borthwick, Hazel-Ann D; Yates, Alexandra M; Hubball, Emma; Rooney, Angela; Khanam, Mazeda; Aggarwal, Neyha; Jones, Peter W; Fryer, Anthony A
Journal:
Epigenomics
Issue:
Volume 5:Number 1(2013)
Page Start:
37
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Issue 5 (1st March 2013)

Authors:
Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld,...
Other Names:
contributor.
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 5(2013)
Page Start:
309
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. HumanMethylation450K Array–Identified Biomarkers Predict Tumour Recurrence/Progression at Initial Diagnosis of High-risk Non-muscle Invasive Bladder Cancer. Issue 10 (6th January 2018)

Authors:
Kitchen, Mark O; Bryan, Richard T; Emes, Richard D; Luscombe, Christopher J; Cheng, KK; Zeegers, Maurice P; James, Nicholas D; Gommersall, Lyndon M; Fryer, Anthony A
Journal:
Biomarkers in cancer
Issue:
Volume 2018:Issue 10(2018)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗