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GGenetics Read More Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare DiseasesOctober 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 Read More Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare DiseasesAugust 26, 2025 The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
GGenetics Read More 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 DiseasesAugust 21, 2025 Participant demographics Eighteen participants completed the PAS and IIQ surveys and participated in interviews. Table 1 lists participant…
GGenetics Read More 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 DiseasesAugust 1, 2025 Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…