Associated Papers
Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.
Voges TS et al.
Bmc Research Notes, 2024
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Select a paper to view details