Publications by authors named "C Bris"
The VUv Laser for Considering Astrophysical and Isolated Molecules (VULCAIMs) setup [Harper et al., Phys. Chem.
View Article and Find Full Text PDFNowadays, European seabass () aquaculture is undergoing a significant expansion. Nevertheless, the aquaculture industry is plagued by vibriosis. The spatial and temporal dynamics of were studied on a European seabass farm in northern France during seven months of 2022.
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- * The study analyzed 240 fetuses with antenatal signs of TSC, highlighting the diagnostic significance of detecting cardiac rhabdomyomas (CRs); a diagnosis was confirmed in 50% of cases with a single CR and 80.3% with multiple CRs.
- * The research emphasizes the importance of early diagnosis for effective family counseling and notes a 2.6% prevalence of parental germinal mosaicism among the tested parents.
Autosomal recessive pathogenetic variants in the gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients.
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