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Author/Creator Kousathanas Athanasios author non-byline.

1. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Variable skeletal phenotypes associated with biallelic variants in PRKG2. Issue 10 (15th November 2021)

Authors:
Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi,...
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 10(2022)
Page Start:
947
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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