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Author/Creator Barrett, Timothy

21. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. (3rd November 2021)

Authors:
Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fra...
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:
BMJ
Issue:
Volume 375(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

22. WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome. Issue 1 (18th May 2021)

Authors:
Hu, Kun; Zatyka, Malgorzata; Astuti, Dewi; Beer, Nicola; Dias, Renuka P; Kulkarni, Archana; Ainsworth, John; Wright, Benjamin; Majander, Anna; Yu-Wai-Man, Patrick; Williams, Denise; Barrett, Timothy
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 1(2022)
Page Start:
65
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗