Human genetics
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- Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop: part 2.
- Single-molecule real-time (SMRT) sequencing technology shows advantages in the clinical diagnosis of complex thalassemia
- Perisynaptic matrix gene variants underlie DystoniaGeneNet endophenotypes in isolated focal dystonia
- Genetic Variants Associated with Placental Abnormalities in Stillbirths
- Sex-related signatures in the plasma proteome not attributable to XX and XY chromosomes and their impact on health and disease
- Multivariate genetic analysis maps shared biology between psoriasis and cardiovascular diseases
- Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease
- DNA methylation in glioma: clinical biomarkers and emerging biosensor-based diagnostics
- Association of postoperative anxiety and depressive symptom severity with progression-free survival in IDH-wild-type glioblastoma
- Exosome-mediated immunomodulatory and barrier-protective responses of adipose-derived mesenchymal stem cells in oleic acid-induced acute lung injury.
- Macronutrient and micronutrient requirements in sickle cell disease across age groups: a narrative review.
- Clinically suspected central nervous system Richter transformation presenting with progressive psychiatric symptoms: A case report.
- Skull infarction and chronic subdural exudates in a pediatric patient with sickle cell anemia: illustrative case.
- Spinal subependymoma mimicking an intradural extramedullary tumor: illustrative case.
- Quantitative, longitudinal measurements of response to immunotherapy for glioblastoma using multiparametric MRI in a long-term survivor treated with autologous tumor lysate-loaded dendritic cell vaccine: an illustrative case.
- Polygenic prediction of treatment response for precision medicine is vulnerable to collider bias
- Distinct Clinicogenomic Contexts of BRAF-Altered Gliomas and Glioneuronal Tumors: A Nationwide Real-World Study.
- A Novel BCL2 Translocation and Concurrent Chromosome 13q14 Deletion in Chronic Lymphocytic Leukemia: A Case Report.
- Glioblastoma immune landscape remodeling following treatment with CD70-targeted CAR-T cells.
- Local ancestry–aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy
- Rare variant burden complements polygenic risk in breast cancer and is associated with earlier diagnosis
- Large language model classifies prior evidence in gene-phenotype associations
- Genetic determinants of protein phosphorylation in humans
- Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.
- Surgical waste from stereotactic glioma biopsies contains clinically relevant tumor DNA