Categoría: Articulos
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Economic and diagnostic impact of adopting WES and WGS as first-tier tests in the paediatric rare disease diagnosis: evidence from Italy and Spain
Background Methods Results Conclusions …
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Qualitative research of Dup15q syndrome symptoms and impacts to inform disease concept models
Background Methods Results Conclusions …
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Fractures in osteogenesis imperfecta: a review of the frequency, location, and impact on patient quality of life
Background Results Conclusions
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Ferroptosis and glutarylation of glutamate dehydrogenase are involved in neurological impairment in glutaric acidemia type I
Background Methods Results Conclusions …
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Report on the 29th Human Genome Meeting: ‘Bringing Our Genomes to Medicine’
Annals of Human Genetics, EarlyView.
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Japanese intractable and rare dermatologic diseases: From the official skin-centered nanbyo core to an illustrative mechanism-based framework [ Author ] Yue Han,Tian-Ge Qin,Peipei Song [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Traditional Chinese medicine research on rare diseases: Publication trends and future perspectives [ Author ] Li-ming Chen,Xin-yi Chen,Bo-wen Liu,Ying Mu,Qi Kang,Huan-gan Wu [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/10.5582/ird…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Long-term outcomes of brain arteriovenous malformations after microsurgery or transarterial embolization [ Author ] Junyu Liu,Yuxin Guo,Binfeng Yuan,Fang Cao,Yuge Wang,Nibu Zhenmei,Yishu Yuan,Dun Yuan,Weixi Jiang,Yife…