Suzanne C E H Sallevelt
4PUBLICATIONS
6CO-AUTHORS
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Publications (4)
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|Aug 24, 2021
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.Le Guo, Bob P H Engelen, Irene M G M Hemel
|Mar 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.Suzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning
|Feb 15, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Rick Kamps, Radek Szklarczyk, Tom E Theunissen
|May 12, 2017
A comprehensive strategy for exome-based preconception carrier screening.Suzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk
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