Associated Papers
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
41278337 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_S13
Molecular Genetics Overview of Primary Mitochondrial Myopathies.
Arena IG et al.
Journal of Clinical Medicine, 2022
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL et al.
American Journal of Human Genetics, 2016
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