Leigh A M Demain
5PUBLICATIONS
7CO-AUTHORS
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Publications (5)
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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
|Apr 20, 2018
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.L A M Demain, D Antunes, J O'Sullivan
|Oct 18, 2016
Genetics of mitochondrial dysfunction and infertility.L A M Demain, G S Conway, W G Newman
|Sep 16, 2016
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.R Faridi, A U Rehman, R J Morell
|Mar 13, 2016
Expanding the genotypic spectrum of Perrault syndrome.L A M Demain, J E Urquhart, J O'Sullivan
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