Categoría: Articulos
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Determination of 3-O-methyldopa levels in dried blood spots of patients with associated pathologies to AADC deficiency from Gran Canaria Island
Introduction Objective Methods Results …
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Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers
Background Methods Results Conclusion …
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Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study
European Journal of Human Genetics, Published online: 06 October 2026; doi:10.1038/s41431-026-02250-3Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study
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Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
European Journal of Human Genetics, Published online: 06 October 2026; doi:10.1038/s41431-026-02242-3Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
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Determinants of quality of life in hereditary haemorrhagic telangiectasia: the relative roles of bleeding, anaemia and visceral involvement
Background and aims Methods Results Conclusi…
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Brain stimulation timing may shape memory outcomes in Parkinson’s patients with GBA1 mutations
The timing of deep brain stimulation (DBS) surgery is a critical factor in preserving cognitive function for Parkinson’s disease patients with a specific genetic mutation, according to a new study by an international team of researchers.
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New HPV selection method could help develop more stable, easier-to-produce vaccines
It’s recommended that all adolescents get vaccinated against human papillomavirus (HPV), as the infection can cause cancer. HPV causes nearly all cases of cervical cancer and about 70% of some forms of head and neck cancers. While some regions of the U…
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Rare genetic variants linked to lower cognitive test scores in expanded analysis
The largest genetic study of cognition to date has been published, involving nearly half a million people of European ancestry. This provides a new understanding of the genetic factors that shape cognitive differences and can help us better understand …
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Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM)
European Journal of Human Genetics, Published online: 05 October 2026; doi:10.1038/s41431-026-02247-yPatient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis …