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A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis.
J Thromb Haemost. 2023 Oct;21(10):2913-2916. doi: 10.1016/j.jtha.2023.06.029. Epub 2023 Jul 4.
J Thromb Haemost. 2023.
PMID: 37414287
Free article.
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
Mol Biol Rep. 2023 Dec 29;51(1):44. doi: 10.1007/s11033-023-08971-8.
Mol Biol Rep. 2023.
PMID: 38158430
Scrotal abscess caused by Candida glabrata in a patient with uncontrolled diabetes mellitus and chronic renal failure.
Rev Inst Med Trop Sao Paulo. 2024 Dec 6;66:e71. doi: 10.1590/S1678-9946202466071. eCollection 2024.
Rev Inst Med Trop Sao Paulo. 2024.
PMID: 39699427
Free PMC article.
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
Eur J Pediatr. 2024 Dec 7;184(1):68. doi: 10.1007/s00431-024-05855-2.
Eur J Pediatr. 2024.
PMID: 39643721
Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic.
Graefes Arch Clin Exp Ophthalmol. 2024 Nov 27. doi: 10.1007/s00417-024-06699-0. Online ahead of print.
Graefes Arch Clin Exp Ophthalmol. 2024.
PMID: 39601844
From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.
Am J Med Genet A. 2024 Nov 20:e63934. doi: 10.1002/ajmg.a.63934. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 39564940
Utility of Optical Genome Mapping in Repeat Disorders.
Clin Genet. 2024 Oct 22. doi: 10.1111/cge.14633. Online ahead of print.
Clin Genet. 2024.
PMID: 39435674
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
BMC Med Genomics. 2024 Sep 30;17(1):239. doi: 10.1186/s12920-024-02015-1.
BMC Med Genomics. 2024.
PMID: 39350166
Free PMC article.
"Predicting diabetic kidney disease in youth with type 1 diabetes: Insights from genetic risk assessment".
J Diabetes Complications. 2024 Nov;38(11):108833. doi: 10.1016/j.jdiacomp.2024.108833. Epub 2024 Aug 13.
J Diabetes Complications. 2024.
PMID: 39293150
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