Categoría: Articulos
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Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome
European Journal of Human Genetics, Published online: 10 September 2026; doi:10.1038/s41431-026-02221-8Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome
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Rare variant reveals new hereditary retinal disease that can first impair night vision
An international team of researchers led by the University Hospital and University of Bonn, as well as the universities of Edinburgh, Basel and Pennsylvania, has identified a previously unrecognized form of inherited retinal degeneration caused by a sp…
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Rare variant reveals new hereditary retinal disease that can first impair night vision
An international team of researchers led by the University Hospital and University of Bonn, as well as the universities of Edinburgh, Basel and Pennsylvania, has identified a previously unrecognized form of inherited retinal degeneration caused by a sp…
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Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study
Annals of Human Genetics, EarlyView.
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Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study
Annals of Human Genetics, EarlyView.
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RNA creates a self-destruct switch for cellular machinery linked to leukemia
Cells have all kinds of intricate machinery to control genes, switching them on and off at the right times and under the right conditions. Components of this machinery include chromatin-modifying complexes, groups of proteins that manage how tightly DN…
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RNA creates a self-destruct switch for cellular machinery linked to leukemia
Cells have all kinds of intricate machinery to control genes, switching them on and off at the right times and under the right conditions. Components of this machinery include chromatin-modifying complexes, groups of proteins that manage how tightly DN…
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Correction to “Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights from an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets”
Annals of Human Genetics, Volume 90, Issue 6, Page 356-356, November 2026.
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Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome
European Journal of Human Genetics, Published online: 10 September 2026; doi:10.1038/s41431-026-02221-8Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome