Alessandro Rea
3PUBLICATIONS
19CO-AUTHORS
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Publications (3)
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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
|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
