Human genetics
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- Parent-of-Origin-Aware Genomic Analysis to Enhance Cascade Testing in Pancreatic Cancer: A Population-Based Study
- Paediatric Sickle Cell Disease in Nigeria: From Burden Characterisation to Bridging the Implementation Gap – A Critical Policy Review
- Beyond independent predictors: interrelationships among preoperative characteristics associated with surgical complexity in insular gliomas
- MRI-detected hepatic and cardiac iron overload despite ferritin-guided chelation in thalassemia: A predictive modelling study
- Persistent foramen of Huschke (foramen tympanicum): Morphology, morphometry, developmental persistence, and imaging characteristics – A scoping review
- Identification of ionizing-radiation-exposure-associated hub genes and a five-gene prognostic signature for pediatric medulloblastoma: An integrated bioinformatics study
- CCN1-mediated stress signaling underlies intrinsic cardiomyocyte dysfunction in spinal muscular atrophy
- Depletion of CARM1 slows in vivo tumorigenicity and rewires developmental programming in glioma stem-like cells
- Evaluating miR-122-5p as a biomarker for anti-tuberculosis drug-induced liver injury: diagnostic efficacy and correlation with liver function indicators
- Velaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypes
- Dysregulation of dopamine metabolism in children with spinal muscular atrophy type 1
- Differentiating true progression from pseudoprogression in glioblastomas: Dynamic contrast-enhanced MRI habitat analysis with parsimonious pharmacokinetic model
- L-Glutamine for Pediatric Sickle Cell Disease: Pharmacology, Mechanism of Action, Safety and Efficacy
- Population Genetic Screening of Hemoglobinopathy Carrier Prevalence Compared to Medical Records
- Multi-omics in the All Of Us Research Program expands mapping genetic mechanisms in health and disease
- Single-cell transcriptome-wide association analysis reveals epithelial cell-specific genetic susceptibility to colorectal cancer
- Multimodal Analysis of Transcriptional Regulation in the Dorsolateral Prefrontal Cortex Enhances Alzheimer's Disease Risk Gene Discovery
- Caregivers perspectives on multidisciplinary clinic visits for Duchenne and Becker muscular dystrophy.
- Machine learning for biomarker-driven thalassemia diagnosis: a framework for causal effect estimation
- Single-Cell Analysis of Human SVF Reveals Early Transcriptional and Communication Shifts During ASC Culture Expansion
- Quantification of the Impact of Slice Thickness on Volumetric Analysis of Brain Tumors.
- Glioblastoma as a dynamic tumor ecosystem: from molecular alterations to therapeutic translation.
- Long-range chromatin interactions nominate candidate susceptibility genes at non-coding PDAC risk loci
- A connection-level genetic atlas of human cortical functional connectivity at rest and during a task
- Senescent Mesenchymal Stromal Cells Drive Stem Cell Aging Through Dysregulated Chemokine Synthesis.