Intergen (Turkey)

Recent papers from Intergen (Turkey)

1. Neonatal Niemann–Pick type C: a case series integrating clinical findings, structural modeling and ACMG-based variant interpretationOrphanet Journal of Rare Diseases · 2026
2. Neonatal Aicardi–Goutières syndrome presenting with macrophage activation syndrome-like hyperinflammation and severe congenital glaucoma: a case reportPediatric Rheumatology · 2026
3. Deep Intronic NPC1 Variants in Niemann–Pick Disease Type C: A Pediatric Case Report and Systematic ReviewNeuropediatrics · 2026
4. Ultra-rapid versus conventional oocyte vitrification: a comparative study of clinical and molecular outcomes with single-cell transcriptomic insightsHuman Reproduction · 2026
5. GPR15-guided CD8+ T regulatory cells control intestinal inflammationNature · 2026
6. CD137 deficiency patients: two new patients and review of the literatureClinical & Experimental Immunology · 2026
7. Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiencyJournal of Turkish Society of Obstetric and Gynecology · 2026
8. miR-99b-5p inhibition drives apoptosis and tumor shrinkage in triple-negative breast cancer: functional characterization through AGO2-RIP-seq and mechanistic insightsFrontiers in Oncology · 2026
9. Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiencySHILAP Revista de lepidopterología · 2026
10. Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathiesJournal of Medical Genetics · 2026
11. Carrier Frequency of Neurodegeneration with Brain Iron Accumulation ( NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing DataMovement Disorders · 2026
12. The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel VariantsJournal of Clinical Immunology · 2026
13. Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing SymptomsChildren · 2026
14. Genomic insight into Anoxybacillus dikiliensis sp. nov., a hot spring isolate from Dikili exhibiting biotechnologically important featuresINTERNATIONAL JOURNAL OF SYSTEMATIC AND EVOLUTIONARY MICROBIOLOGY · 2026
15. Potential Role of IFIH1 Gene Variant in Autoimmune Hemolytic Anemia: A Case ReportJournal of Pediatric Hematology/Oncology · 2026
16. Changes in nuclear and mitochondrial DNA methylation in cow blood associated with age and diseaseEpigenetics · 2025
17. Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?Journal of Neuromuscular Diseases · 2025
18. Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?Journal of Neuromuscular Diseases · 2025
19. TBXAS1 deficiency: a novel monogenic cause of chronic nonbacterial osteomyelitis responsive to COX inhibitorsExpert Review of Clinical Immunology · 2025
20. Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiencyJournal of Pediatric Endocrinology and Metabolism · 2025