Search Results - "Fluriach Dominguez, N." :: K.UTB vyhledávací portál

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype

by Jennions, E., Olsson‐Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A., Hedberg‐Oldfors, C.
Published in American journal of medical genetics. Part A (01.10.2024)

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535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant

by Oldfors, C., Jennions, E., Olsson-Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A.
Published in Neuromuscular disorders : NMD (01.10.2024)

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Journal Article

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype

535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant

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