Categoría: EurJHumGen
-
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
-
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
-
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…
-
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
-
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
-
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
-
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
-
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
-
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
-
Using exomes better
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01539-5Using exomes better