Associated Papers
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Birjiniuk A et al.
American Journal of Medical Genetics. Part A, 2020
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.
Burr SP et al.
Cell Metabolism, 2016
27923773 (PubMed )
Supplement: mmc1.pdf
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U et al.
Frontiers in Genetics, 2015
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