Etiqueta: #EurJHumGen
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Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencing
European Journal of Human Genetics, Published online: 01 December 2025; doi:10.1038/s41431-025-01987-7Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencing
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between <i>TPMT</i>/<i>NUDT15</i> and thiopurines
European Journal of Human Genetics, Published online: 29 November 2025; doi:10.1038/s41431-025-01986-8Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between TPMT/NUDT15 and thiopurines
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When clinical genetics turns the risk lens on itself
European Journal of Human Genetics, Published online: 29 November 2025; doi:10.1038/s41431-025-01985-9When clinical genetics turns the risk lens on itself
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<i>KIF1A</i>-associated neurological disorders: therapeutic opportunities and challenges
European Journal of Human Genetics, Published online: 27 November 2025; doi:10.1038/s41431-025-01978-8KIF1A-associated neurological disorders: therapeutic opportunities and challenges
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Identification of an episignature for the <i>MEF2C</i>-associated syndrome
European Journal of Human Genetics, Published online: 25 November 2025; doi:10.1038/s41431-025-01983-xIdentification of an episignature for the MEF2C-associated syndrome
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Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome
European Journal of Human Genetics, Published online: 23 November 2025; doi:10.1038/s41431-025-01984-wConcerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni synd…
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Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
European Journal of Human Genetics, Published online: 21 November 2025; doi:10.1038/s41431-025-01982-yGenetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
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Systematic review of preferences for additional findings from genomic testing
European Journal of Human Genetics, Published online: 20 November 2025; doi:10.1038/s41431-025-01968-wSystematic review of preferences for additional findings from genomic testing
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Endometriosis – on the intersection of modern environmental pollutants and ancient genetic regulatory variants
European Journal of Human Genetics, Published online: 20 November 2025; doi:10.1038/s41431-025-01977-9Endometriosis – on the intersection of modern environmental pollutants and ancient genetic regulatory variants
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Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community
European Journal of Human Genetics, Published online: 17 November 2025; doi:10.1038/s41431-025-01979-7Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the …