Categoría: EurJHumGen
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Thirty-year of genetic counselling education in Europe: a growing professional area
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01552-8Thirty-year of genetic counselling education in Europe: a growing professional area
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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense <i>KANSL1</i> variants and comparison to fibroblast cells
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01561-7Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and compar…
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Ethical and social reflections on the proposed European Health Data Space
European Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01543-9Ethical and social reflections on the proposed European Health Data Space
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The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
European Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01551-9The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
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Expanding the phenotypic spectrum of <i>LIG4</i> pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01558-2Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of th…
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Overcoming barriers to equitable genomic healthcare
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01557-3Overcoming barriers to equitable genomic healthcare
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Phenotypic compatibility and specificity in genomic variant classification
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01554-6Phenotypic compatibility and specificity in genomic variant classification
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Identification of the DNA methylation signature of Mowat-Wilson syndrome
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01548-4Identification of the DNA methylation signature of Mowat-Wilson syndrome
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Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review
European Journal of Human Genetics, Published online: 06 February 2024; doi:10.1038/s41431-024-01547-5Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review
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Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-023-01526-2Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment