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Author/Creator Charlton, Ruth

1. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. Issue 1 (December 2016)

Authors:
Watson, Christopher; Crinnion, Laura; Berry, Ian; Harrison, Sally; Lascelles, Carolina; Antanaviciute, Agne; Charlton, Ruth; Dobbie, Angus; Carr, Ian; Bonthron, David
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. INTERNATIONAL Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience. Issue 2 (2020)

Authors:
Quadery, Syed Rehan; Roodbari, Hamid; Pardeshi, Pradeep; Shah, Dilip; Ahmed, Hira; Jain, Seema; Saridis, Jason; Rahman, Shakil; Ratnasingam, Nithiyananthan; Ebdon, Caroline; Bogle, Richard; Marsh, James; Charlton, Ruth; Lim, Guan; Makanjoula, David; Camp, Daniel; Winn, Simon
Journal:
Future healthcare journal
Issue:
Volume 7:Issue 2(2020)
Page Start:
131
Record Type:
Journal Article
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5. Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. (9th September 2018)

Authors:
Whitehouse, Laura L. E.; Smith, Claire E. L.; Poulter, James A.; Brown, Catriona J.; Patel, Anesha; Lamb, Teresa; Brown, Lucy R.; O'Sullivan, Elizabeth A.; Mitchell, Rowena E.; Berry, Ian R.; Charlton, Ruth; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Oral diseases
Issue:
Volume 25:Number 1(2019)
Page Start:
182
Record Type:
Journal Article
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6. Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface. Issue 4 (April 2014)

Authors:
Watson, Christopher M.; Crinnion, Laura A.; Morgan, Joanne E.; Harrison, Sally M.; Diggle, Christine P.; Adlard, Julian; Lindsay, Helen A.; Camm, Nick; Charlton, Ruth; Sheridan, Eamonn; Bonthron, David T.; Taylor, Graham R.; Carr, Ian M.
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
434
Record Type:
Journal Article
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7. Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study. (March 2021)

Authors:
Teoh, Lucinda J; Solebo, Ameenat Lola; Rahi, Jugnoo S; Abbott, Joe; Abdullah, Wajda; Adams, Gill; Allen, Louise; Anderson, Christopher; Ansell, Karen; Anwar, Samira; Ash, Isabel; Ashworth, Jane; Aslam, Sher; Astagi, Majunath; Ball, Colin; Balu, Rajesh; Barrett, Victoria; Bassi, Zahabiyah; Bates, ...
Journal:
Lancet
Issue:
Volume 5:Number 3(2021)
Page Start:
190
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗