Thomas B Smith

2PUBLICATIONS
11CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Behavioural genetics
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Publications (2)

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|Oct 07, 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.

Thomas B Smith, Robert Kopajtich, Leigh A M Demain

|Aug 09, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Thomas B Smith, Alessandro Rea, Huw B Thomas

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Frequent Collaborators

2 joint publications

Alessandro Rea

2 joint publications

Henry Houlden

2 joint publications

William G Newman

2 joint publications

Raymond T O'Keefe

1 joint publications

Reza Maroofian

1 joint publications

Saeid Sadeghian

1 joint publications

Tal Gilboa

1 joint publications

Thomas J McCorvie

1 joint publications

Leigh A M Demain

1 joint publications

Alexander J M Blakes

Frequent Collaborators

2 joint publications

Alessandro Rea

2 joint publications

Henry Houlden

2 joint publications

William G Newman

2 joint publications

Raymond T O'Keefe

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