Etiqueta: #EurJHumGen
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Brugada Syndrome: an exemplar for the genomic basis of sudden death
European Journal of Human Genetics, Published online: 14 November 2025; doi:10.1038/s41431-025-01972-0Brugada Syndrome: an exemplar for the genomic basis of sudden death
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The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial
European Journal of Human Genetics, Published online: 07 November 2025; doi:10.1038/s41431-025-01921-xThe efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial
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Advancing towards clear and patient-centred language in cancer genetics
European Journal of Human Genetics, Published online: 05 November 2025; doi:10.1038/s41431-025-01976-wAdvancing towards clear and patient-centred language in cancer genetics
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What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
European Journal of Human Genetics, Published online: 20 February 2024; doi:10.1038/s41431-024-01555-5What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01563-5Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01553-7Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01562-6Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
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Expansion of the neurodevelopmental phenotype of individuals with <i>EEF1A2</i> variants and genotype-phenotype study
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01560-8Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
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The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01549-3The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
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Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagno…