Associated Papers
Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.
Voges TS et al.
Bmc Research Notes, 2024
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
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
Molecular Genetics Overview of Primary Mitochondrial Myopathies.
Arena IG et al.
Journal of Clinical Medicine, 2022
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD et al.
Jama Neurology, 2013
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