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James O'Sullivan, BSc
Mr
Extended Project Post (Scientist)
,
Division of Evolution, Infection and Genomics
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Research output
(57)
Similar Profiles
(6)
Research output
56
Article
1
Preprint
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2024
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
DDD Study
,
21 Aug 2024
,
Cold Spring Harbor Laboratory Press
, (medRxiv).
Research output
:
Preprint/Working paper
›
Preprint
Open Access
Oxidative Phosphorylation
100%
Programmed Cell Death
100%
Nuclear Gene
66%
16S Ribosomal RNA
66%
Fibroblast
66%