Categoría: EurJHumGen
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A homozygote mutation in <i>RPA2</i> associated with bone marrow failure, immunodeficiency, and telomere biology disorder
European Journal of Human Genetics, Published online: 17 February 2026; doi:10.1038/s41431-026-02035-8A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder
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Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models
European Journal of Human Genetics, Published online: 16 February 2026; doi:10.1038/s41431-026-02031-yGenetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service mo…
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Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
European Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02015-yPriority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
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Impact of a digital platform on genetic counselling encounters in the screening context
European Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02029-6Impact of a digital platform on genetic counselling encounters in the screening context
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Delineating the Genetic Basis of <i>RNF213</i>-related vasculopathies: The association of <i>PKHD1</i> variants with bilateral cerebral vasculopathy
European Journal of Human Genetics, Published online: 12 February 2026; doi:10.1038/s41431-026-02030-zDelineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy
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Public and parent perspectives on genomic sequencing in newborn screening: a scoping review
European Journal of Human Genetics, Published online: 06 February 2026; doi:10.1038/s41431-026-02024-xPublic and parent perspectives on genomic sequencing in newborn screening: a scoping review
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Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02022-zNavigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users
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Two siblings with <i>CCDC32</i>-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02023-yTwo siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
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The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02025-wThe potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
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Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02028-7Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris