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Browsing Tag

Surgical Oncology

5 posts
GGenetics
Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer
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Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer

  • October 18, 2025
Park JR, Kreissman SG, London WB, Naranjo A, Cohn SL, Hogarty MD, et al. Effect of tandem autologous…
GGenetics
Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales
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Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales

  • September 17, 2025
A total of 29 individuals with mitochondrial variants associated with LHON were identified in the ophthalmic genetics service.…
GGenetics
Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports
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Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports

  • August 29, 2025
BORS is a rare autosomal dominant genetic disorder with significant heterogeneity in clinical practice, and the penetrance rate…
GGenetics
Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports
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Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports

  • August 11, 2025
The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…
GGenetics
Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports
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Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports

  • July 12, 2025
Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…
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