Categoría: EurJHumGen
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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
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Bi-allelic <i>PRRT2</i> variants may predispose to Self-limited Familial Infantile Epilepsy
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01541-xBi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
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2023 in the European Journal of Human Genetics
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01540-y2023 in the European Journal of Human Genetics
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Using exomes better
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01539-5Using exomes better
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Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01544-8Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk…
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The value of genomic testing in severe childhood speech disorders
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01534-wThe value of genomic testing in severe childhood speech disorders
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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01542-wDiagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
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Blood donor biobank as a resource in personalised biomedical genetic research
European Journal of Human Genetics, Published online: 12 January 2024; doi:10.1038/s41431-023-01528-0Blood donor biobank as a resource in personalised biomedical genetic research