Autor: Carolina Jaramillo Oquendo
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RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02243-2RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
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RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02243-2RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
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HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
European Journal of Human Genetics, Published online: 10 March 2026; doi:10.1038/s41431-026-02042-9HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders