Categoría: Articulos
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Biallelic <i>RDH11</i> variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series
European Journal of Human Genetics, Published online: 16 September 2026; doi:10.1038/s41431-026-02232-5Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter…
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Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD
European Journal of Human Genetics, Published online: 16 September 2026; doi:10.1038/s41431-026-02217-4Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD
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Neuron cell bodies switch gene programs to steer growing axons, study finds
A new discovery by neuroscientists at Brown University’s Carney Institute for Brain Science challenges long-held beliefs in neurobiology about how neurons extend axons to reach their targets.
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Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome
Background Methods Results Conclusions …
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CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic review
Introduction Results Conclusion
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Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation
Background Objective Methods Results …
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Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells
Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. We pr…
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Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic offer
European Journal of Human Genetics, Published online: 15 September 2026; doi:10.1038/s41431-026-02226-3Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic o…
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How myth-busting science changed cerebral palsy
Research from Adelaide continues to play a major role in changing the world’s understanding of cerebral palsy, tracing its causes back to genetics and reducing costly litigation against obstetricians. Leading Adelaide University cerebral palsy research…
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How myth-busting science changed cerebral palsy
Research from Adelaide continues to play a major role in changing the world’s understanding of cerebral palsy, tracing its causes back to genetics and reducing costly litigation against obstetricians. Leading Adelaide University cerebral palsy research…