Categoría: EurJHumGen
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Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
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A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
European Journal of Human Genetics, Published online: 06 July 2026; doi:10.1038/s41431-026-02171-1A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
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A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
European Journal of Human Genetics, Published online: 06 July 2026; doi:10.1038/s41431-026-02171-1A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
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Parental and public views on genomic newborn screening: a systematic review
European Journal of Human Genetics, Published online: 04 July 2026; doi:10.1038/s41431-026-02173-zParental and public views on genomic newborn screening: a systematic review
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Parental and public views on genomic newborn screening: a systematic review
European Journal of Human Genetics, Published online: 04 July 2026; doi:10.1038/s41431-026-02173-zParental and public views on genomic newborn screening: a systematic review
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Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
European Journal of Human Genetics, Published online: 03 July 2026; doi:10.1038/s41431-026-02156-0Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
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Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
European Journal of Human Genetics, Published online: 03 July 2026; doi:10.1038/s41431-026-02156-0Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
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Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
European Journal of Human Genetics, Published online: 02 July 2026; doi:10.1038/s41431-026-02175-xCharacterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
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Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
European Journal of Human Genetics, Published online: 02 July 2026; doi:10.1038/s41431-026-02175-xCharacterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
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<i>CMIP</i> as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
European Journal of Human Genetics, Published online: 01 July 2026; doi:10.1038/s41431-026-02169-9CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders