Carlos
Santos Ocaña
Universitat de Barcelona
Barcelona, EspañaUniversitat de Barcelona-ko ikertzaileekin lankidetzan egindako argitalpenak (3)
2024
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434
2017
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Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
Stem Cell Research, Vol. 24, pp. 144-147
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Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703