Associated Papers
Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum.
Wongkittichote P et al.
Jimd Reports, 2025
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
Dawidziuk M et al.
Journal of Applied Genetics, 2023
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
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