Categoría: Articulos
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Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic offer
European Journal of Human Genetics, Published online: 15 September 2026; doi:10.1038/s41431-026-02226-3Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic o…
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Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome
Background Methods Results Conclusions …
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CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic review
Introduction Results Conclusion
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Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation
Background Objective Methods Results …
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Hidden proteins in ‘non-coding’ RNA may offer new clues to cancer progression
Scientists have long believed that large stretches of our genetic material, known as long noncoding RNAs (lncRNAs), help regulate genes but do not produce proteins. A new study by Stav Zok and Professor Michal Linial from the Hebrew University of Jerus…
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Hidden proteins in ‘non-coding’ RNA may offer new clues to cancer progression
Scientists have long believed that large stretches of our genetic material, known as long noncoding RNAs (lncRNAs), help regulate genes but do not produce proteins. A new study by Stav Zok and Professor Michal Linial from the Hebrew University of Jerus…
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FMN1 gene is essential for hearing, study reveals
A new study has identified FMN1 as a gene required for hearing in both humans and mice, revealing a previously unknown role for formin-1 in maintaining the microscopic cellular architecture of the inner ear. The findings also point to a connection betw…
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FMN1 gene is essential for hearing, study reveals
A new study has identified FMN1 as a gene required for hearing in both humans and mice, revealing a previously unknown role for formin-1 in maintaining the microscopic cellular architecture of the inner ear. The findings also point to a connection betw…
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Scientists uncover why some Huntington’s disease patients decline years earlier
A new study has revealed why some people with Huntington’s disease develop symptoms 10–12 years earlier and experience a more aggressive form of the disease.
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Scientists uncover why some Huntington’s disease patients decline years earlier
A new study has revealed why some people with Huntington’s disease develop symptoms 10–12 years earlier and experience a more aggressive form of the disease.