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A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
(ELSEVIER, 2022)
Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency ...
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
(Wiley, 2022)
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different ...