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