Associated Papers
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.
Xiao R et al.
Iscience, 2024
38414864 (PubMed )
Supplement: mmc1.pdf
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
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