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Author/Creator Stuckey, Alex

3. 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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Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗