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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
UploadHeteroplasmic mitochondrial DNA variants in cardiovascular diseases
Download from doi.orgAberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency
UploadMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Download from onlinelibrary.wiley.comGermline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma
Download from ashpublications.orgMutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons
UploadA novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
UploadGenetic heterogeneity of motor neuropathies
Download from europepmc.orgMitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
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