Categoría: Articulos
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Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization
European Journal of Human Genetics, Published online: 12 October 2026; doi:10.1038/s41431-026-02256-xOptimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven pri…
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Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization
European Journal of Human Genetics, Published online: 12 October 2026; doi:10.1038/s41431-026-02256-xOptimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven pri…
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DNA changes in Alzheimer’s disease: What they mean to patients, families
Scientists know that age is the greatest risk factor for Alzheimer’s disease, but aging alone doesn’t explain why some people develop the condition while others do not. Genetics, lifestyle factors and environmental influences also appear to play a role…
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DNA changes in Alzheimer’s disease: What they mean to patients, families
Scientists know that age is the greatest risk factor for Alzheimer’s disease, but aging alone doesn’t explain why some people develop the condition while others do not. Genetics, lifestyle factors and environmental influences also appear to play a role…
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Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases
Background Methods Results Conclusions
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Cross-lineage anomaly detection of microRNA expression: a framework for deriving exploratory candidate biomarkers in sarcoma
IntroductionSarcomas are rare, heterogeneous malignancies of mesenchymal origin whose diagnosis and molecular classification remain challenging. We introduced a oneclass anomaly detection framework to microRNA expression profiles to test whether sarcom…
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An extremely old giant tortoise named Jonathan may hold the secret to a long, healthy life
An international collaboration led by a neurologist and experts in advanced genomics at Vanderbilt Health has coaxed one of the secrets of extreme longevity from a 194-year-old giant tortoise named Jonathan.
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An extremely old giant tortoise named Jonathan may hold the secret to a long, healthy life
An international collaboration led by a neurologist and experts in advanced genomics at Vanderbilt Health has coaxed one of the secrets of extreme longevity from a 194-year-old giant tortoise named Jonathan.
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Aspirin rarely used for colorectal cancer prevention
People with Lynch syndrome have a significantly increased risk of developing colorectal cancer and other types of cancer due to a hereditary predisposition. The CAPP2 study had already shown in this high-risk group that acetylsalicylic acid can signifi…