Associated Papers
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
39763161 (PubMed )
Supplement: supplement_1.docx
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH et al.
Orphanet Journal of Rare Diseases, 2020
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
Komlosi K et al.
Orphanet Journal of Rare Diseases, 2018
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS et al.
Journal of the Neurological Sciences, 2013
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