Categoría: Articulos
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Pulmonary atresia with “intact ventricular septum” associated with a ventricular septal defect: an apparent paradox?
Background Methods Results Conclusion …
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Preliminary metabolomic and genomic exploration with gene-expression validation in multiple symmetric lipomatosis
Background Methods Results Conclusions …
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Characterising the ‘Genomics Friend’: Experiences of learning genomics in the workplace to inform implementation efforts
European Journal of Human Genetics, Published online: 03 October 2026; doi:10.1038/s41431-026-02245-0Characterising the ‘Genomics Friend’: Experiences of learning genomics in the workplace to inform implementation efforts
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Genomics cycle: discover, diagnose, interpret, act
European Journal of Human Genetics, Published online: 03 October 2026; doi:10.1038/s41431-026-02251-2Genomics cycle: discover, diagnose, interpret, act
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Real-world outcomes after switching to cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a case series
Background Methods Results Conclusions …
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Real-world outcomes after switching to cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a case series
Background Methods Results Conclusions …
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Genomics cycle: discover, diagnose, interpret, act
European Journal of Human Genetics, Published online: 03 October 2026; doi:10.1038/s41431-026-02251-2Genomics cycle: discover, diagnose, interpret, act
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Tracing fetal DNA through maternal blood can help reduce prenatal testing errors
Understanding how fetal DNA travels in a pregnant woman’s blood could unlock the next generation of prenatal screening, according to a new paper published in Science Advances.