Etiqueta: #EurJHumGen
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Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort
European Journal of Human Genetics, Published online: 10 January 2026; doi:10.1038/s41431-025-02009-2Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort
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Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
European Journal of Human Genetics, Published online: 10 January 2026; doi:10.1038/s41431-025-02012-7Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic s…
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Chronological frameworks for Indo-European languages: Insights from linguistics, archaeology and genomics
European Journal of Human Genetics, Published online: 09 January 2026; doi:10.1038/s41431-025-01998-4Chronological frameworks for Indo-European languages: Insights from linguistics, archaeology and genomics
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Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-02002-9Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
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Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-02006-5Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria
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Newly identified <i>ARF3</i> variants strengthen the causal link between Golgi fragmentation and brain malformations
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-02001-wNewly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations
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Clinical implementation of polygenic risk scores
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-01999-3Clinical implementation of polygenic risk scores
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Promises under pressure: the modest predictive power of polygenic risk scores
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-01996-6Promises under pressure: the modest predictive power of polygenic risk scores
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The absolute chronology of the presence of Indo-European/Indic languages in the Indian subcontinent
European Journal of Human Genetics, Published online: 08 January 2026; doi:10.1038/s41431-025-01997-5The absolute chronology of the presence of Indo-European/Indic languages in the Indian subcontinent
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Impact of <i>BRCA1/2</i> status on young women’s sexual function, relationships, and reproduction after predictive genetic testing
European Journal of Human Genetics, Published online: 03 January 2026; doi:10.1038/s41431-025-02010-9Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing