GGenetics Read More Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC CancerOctober 18, 2025 Park JR, Kreissman SG, London WB, Naranjo A, Cohn SL, Hogarty MD, et al. Effect of tandem autologous…
GGenetics Read More Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from WalesSeptember 17, 2025 A total of 29 individuals with mitochondrial variants associated with LHON were identified in the ophthalmic genetics service.…
GGenetics Read More Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case ReportsAugust 29, 2025 BORS is a rare autosomal dominant genetic disorder with significant heterogeneity in clinical practice, and the penetrance rate…
GGenetics Read More Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case ReportsAugust 11, 2025 The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…
GGenetics Read More Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case ReportsJuly 12, 2025 Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…