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Browsing Tag

Pharmacology/Toxicology

6 posts
HHealth
Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study | Orphanet Journal of Rare Diseases
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Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study | Orphanet Journal of Rare Diseases

  • October 23, 2025
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis…
GGenetics
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
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Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases

  • October 15, 2025
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article  PubMed  Google Scholar  Flume PA,…
GGenetics
Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
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Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases

  • August 26, 2025
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
GGenetics
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services | Orphanet Journal of Rare Diseases
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Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services | Orphanet Journal of Rare Diseases

  • August 22, 2025
Participant demographics Eighteen participants completed the PAS and IIQ surveys and participated in interviews. Table 1 lists participant…
SScience
From gene hunter to drug hunter
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From gene hunter to drug hunter

  • August 15, 2025
Howard Chang wasn’t looking for a change from his job at Stanford, where he worked as both a…
GGenetics
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
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Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases

  • August 1, 2025
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
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