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Alessandro Rea

3PUBLICATIONS

19CO-AUTHORS

Medical biochemistry - proteins and peptides (incl. medical proteomics)Behavioural geneticsNeurogenetics

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Publications (3)

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|Oct 07, 2024

Biallelic variants in <i>DAP3</i> 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

|Aug 02, 2021

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer

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Frequent Collaborators

3 joint publications

Raymond T O'Keefe

3 joint publications

William G Newman

2 joint publications

Henry Houlden

2 joint publications

Thomas B Smith

1 joint publications

Rabia Faridi

1 joint publications

Cristina Fenollar-Ferrer

1 joint publications

Zunaira Munir

1 joint publications

Asma Ali Khan

1 joint publications

Sheikh Riazuddin

1 joint publications

Michael Hoa

Frequent Collaborators

3 joint publications

Raymond T O'Keefe

3 joint publications

William G Newman

2 joint publications

Henry Houlden

2 joint publications

Thomas B Smith

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