Categoría: Articulos
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Phenotypic spectrum and diagnostic evolution in GLUT1 deficiency syndrome: a single-centre adult cohort experience
Background Methods Results Conclusion …
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Validation of the 7-day FABPRO-GI questionnaire in Turkish Fabry disease patients
Background Methods Results Conclusions …
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Rethinking rare genetic disorders
European Journal of Human Genetics, Published online: 06 November 2026; doi:10.1038/s41431-026-02264-xRethinking rare genetic disorders
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Neural signaling protein could be therapeutic target for autism-linked gene deletion
A particular signaling protein in the brain could be a therapeutic target for neurological disorders arising from the deletion of the autism-linked gene MEF2C, University of Illinois Urbana-Champaign researchers found in a new mouse study published in …
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Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network
Background Aims Methods Results …
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This month in The Journal
Cross-phenotype associations can arise through pleiotropy, a process by which a single gene influences multiple traits. Vertical pleiotropy occurs when the genetic effect on one trait directly mediates the effect on another trait, whereas horizontal pl…
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Scaling haplospecific antisense oligonucleotides from N-of-1 to broad use in genetic disease populations by diplotyping
Antisense oligonucleotides (ASOs) made for one individual’s extremely rare causal variant usually cannot help others. We show that by designing ASOs against common haplotypes rather than causal variants, a small set of pre-designed ASOs could treat mos…