Categoría: Articulos
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Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints
Background Methods Results Conclusions …
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Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints
Background Methods Results Conclusions …
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Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
European Journal of Human Genetics, Published online: 12 September 2026; doi:10.1038/s41431-026-02224-5Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI
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Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02229-0Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment
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The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02213-8The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
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Professional bodies: how best to promote and support individuals working in human genetics and genomics
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02032-xProfessional bodies: how best to promote and support individuals working in human genetics and genomics
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Correction: Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02219-2Correction: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
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Towards a Robust cell-free DNA Isolation Protocol for NGS Applications in a Clinical Molecular Diagnostics Setting
Cell-free DNA (cfDNA), released from apoptotic and necrotic cells into body fluids, is a non-invasive source of genetic information for disease prediction, diagnosis, and monitoring. However, its low abundance makes cfDNA highly susceptible to various …