Categoría: EurJHumGen
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Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01510-wAre disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
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Exome sequencing of <i>ATP1A3</i>-negative cases of alternating hemiplegia of childhood reveals <i>SCN2A</i> as a novel causative gene
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01489-4Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
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Associating <i>CYP2A6</i> structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01518-2Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
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Complex rearrangement in <i>TBC1D4</i> in an individual with diabetes due to severe insulin resistance syndrome
European Journal of Human Genetics, Published online: 12 December 2023; doi:10.1038/s41431-023-01512-8Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
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Correction: <i>CDK13</i>-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
European Journal of Human Genetics, Published online: 08 December 2023; doi:10.1038/s41431-023-01515-5Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases