Human genetics
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- Scalable context-dependent single-cell eQTL mapping reveals disease-relevant regulatory variation beyond static models
- Gene-gene and Gene-Environment Interactions Improve Genetic Risk Predictions for Complex Diseases
- MYCN-induced lineage infidelity initiates SHH medulloblastoma-like tumors outside the canonical lineage of origin
- Prevalence and factors associated with depression and suicidality among children and adolescents with sickle cell anaemia in eastern Uganda
- Lysosomal alkalinization: a convergent mechanism in lysosomal storage disorders and classical neurodegenerative diseases
- Diet-responsive proteogenomic effects following short-term restriction of animal products in humans
- Diagnostic Accuracy of APTw and NOEw MRI Metrics for IDH Mutation and 1p/19q Codeletion Prediction in Gliomas
- Early loss of axons limits the therapeutic window in a mouse model of spinal muscular atrophy.
- MRI-based mesenchymal stem cells: a theragnostic approach to fibrosis.
- Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges
- Human cortico-vascular assembloids reveal a CELF2-AHNAK-dependent switch from neuronal to endothelial tropism in glioblastoma cells.
- Large-scale compound screening reveals sensitivities to SM1-71, HDACs/mTOR Inhibitor 1, BGT226, and ON013100 in glioma.
- Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
- Dental maturity and overall dental health status in children with β-thalassemia major: a case-control study
- The landscape and plasticity of transposable element expression in an adult stem cell of high physiological and clinical significance.
- Age at Onset and Liability to Disorder: Estimating Covariances in Censored Populations
- Single-cell dissection of shoulder-derived mesenchymal stem cells reveals source-specific progenitor heterogeneity and a SIX2-driven chondrogenic program.
- Non-pharmacological interventions as adjuncts to iron chelation therapy in sickle cell disease on chronic transfusion: a scoping review with evidence gap mapping.
- EGFR and TP53 mutations refine prognostic stratification of IDH-wildtype astrocytomas, not elsewhere classified.
- Systemic inflammation response index and total cholesterol in relation to the occurrence of major adverse cardiovascular and cerebrovascular events in patients with myeloproliferative neoplasms.
- Exploring barriers to healthcare access among individuals with sickle cell disease and their caregivers in the tribal areas of Rajasthan: application of socio-ecological model
- A stratified cell sheet platform coordinating dual osteogenic and chondrogenic differentiation for osteochondral tissue engineering.
- Regional brain iron deposition and functional alterations in thalassemia: a multimodal human study with murine validation.
- Waldenstrom's macroglobulinemia in siblings: a single institutional experience with 10 cases at 25 years and a review of the literature.
- Sonolucent cranial windows for bedside ultrasound identification of MRI-concordant glioblastoma recurrence during outpatient surveillance: an imaging correlation pilot study.