Human genetics
961 studies23 in 7 days555 in 30 days
Filters
Latest
961 studies
- The thrombopoietin receptor S264F mutant drives MPN with marrow fibrosis through a dual mechanism
- An evaluation of mitapivat for the treatment of non-transfusion-dependent alpha- and beta-thalassemia
- Intraventricular tumours: An individual patient data meta-analysis of conventional craniotomy versus minimally invasive techniques
- Canonical residual physics-informed neural networks and algorithmic perturbation landscapes map cell-fate transitions in longitudinal H3K27M glioma
- Recalculated CNV penetrance: what it does and does not change for counselling
- Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.
- The role of vascular pathology in SMA: implications for pathogenesis and treatment.
- The epidemiology of thalassaemia syndromes in Southeast Asia.
- Mesenchymal stromal cells in polytrauma: from immune dysregulation to therapeutic potential.
- Thalassaemia prevention in Asia: progress, challenges, and future directions.
- The multifaceted role of mesenchymal stem cells in infectious diseases: antimicrobial properties, immunomodulation and tissue repair
- Neuro-oncological emergencies requiring critical care intervention.
- Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
- Loss of Snord115 mitigates Snord116-driven sleep abnormalities in mouse models of Prader-Willi syndrome
- Computational identification and experimental validation of early glycinergic impairments in spinal muscular atrophy
- Biological network identifies pathways linking mental health drugs to adverse weight-related side effects
- Repurposing Shotgun Metagenomic Human Host Reads for Mitochondrial Heteroplasmy Detection
- A Multiethnic Analysis of DNA Methylation Reveals Links Between Alzheimer's Disease and Metabolic Comorbidities
- Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology
- GALC variants affect Glucocerebrosidase to Galactosylceramidase activity ratio
- Prenatal ultrasonography diagnosis of fetal microtia with tympanic ring agenesis: a case report.
- Hormonal signaling in glioblastoma: emerging roles in stemness and tumor plasticity.
- Single-cell RNA sequencing combined with artificial intelligence to uncover immunotherapy biomarkers and decipher drug resistance mechanisms in glioblastoma.
- Conditional survival and dynamic prognostic nomogram for histologically defined anaplastic ganglioglioma: a SEER-based analysis
- Functional independence and sociodemographic determinants of activities of daily living among patients with thalassemia in Southern Iraq: a cross-sectional analytical study