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Author/Creator Inglehearn, Chris

1. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Issue 1 (December 2018)

Authors:
Buskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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2. Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100, 000 Genomes Project. Issue 8 (29th October 2021)

Authors:
Best, Sunayna; Lord, Jenny; Roche, Matthew; Watson, Christopher M; Poulter, James A; Bevers, Roel P J; Stuckey, Alex; Szymanska, Katarzyna; Ellingford, Jamie M; Carmichael, Jenny; Brittain, Helen; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A; Wheway, Gabrielle
Other Names:
author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 8(2022)
Page Start:
737
Record Type:
Journal Article
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6. Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration. (22nd May 2013)

Authors:
McKibbin, Martin; Ali, Manir; Inglehearn, Chris; Shires, Mike; Boyle, Kenny; Hocking, Paul M.
Journal:
Veterinary ophthalmology
Issue:
Volume 17:Number 2(2014)
Page Start:
113
Record Type:
Journal Article
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7. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Issue 12 (28th June 2022)

Authors:
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabr...
Other Names:
author non-byline.; Ambrose JC author non-byline.; Arumugam P author non-byline.; Bevers R author non-byline.; Bleda M author non-byline.; Boardman-Pretty F author non-byline.; Boustred C R author non-byline.; Brittain H author non-byline.; Brown MA author non-byline.; Caulfield MJ author non-by...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1151
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗