Human genetics
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- Case Report: Severe depression and suicidality in a young patient with RYR1-related congenital myopathy
- A Value-Based Framework for CLL Care: Results of a Scoping Review
- Exploratory Untargeted Plasma Lipidomics Suggests Subtype-Associated Lipid Alterations in Hereditary Hemolytic Anemias
- Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
- Clinical and genetic characteristics of patients with early-onset or familial parkinsonism: A retrospective single-center cohort
- Unraveling the shared genetic architecture of metabolic bone diseases via genomic structural equation modeling and multi-omics integration
- Genetic and Clinical Characteristics of Thalassemia Trait and Construction of LASSO‐Based Model for Its Differentiating From Iron Deficiency Anemia in Northern China
- Identification and characterization of a novel distinct Pineal Neoplasm with Neuroendocrine and Epithelial Differentiation (PINNED)
- Maternal and Fetal Outcomes of Pregnant Women With Sickle Cell Disease: A Single‐Center Canadian Study
- Cracking the cytokine code in sickle cell disease: Immune‐informatics for precision inflammation mapping, risk prediction and therapeutic discovery
- Case Report: Real-world experience with pacritinib after prior ruxolitinib exposure in myelofibrosis in Saudi Arabia: a report of five cases
- Predictive value of a combined model based on immune indicators and clinical characteristics for the prognosis of patients with primary myelofibrosis
- Parkinson's disease genetic risk converges on Lewy body pathology-associated microglial states
- Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy
- Population-scale genome-wide prioritization of targets for allele-specific antisense oligonucleotide therapy design
- Plasma Proteogenomics Identifies RGMB as a Candidate for Primary Open-Angle Glaucoma Detected Only in East Asians
- Comparing the Phenotypic and Genetic Differences Between Autistic Regression and Autism Without Regression Using the SPARK Cohort
- CREBBP variants underlying Menke-Hennekam syndrome exhibit histone acetyltransferase hyperactivity with divergent phase behaviors
- Radiographic progression patterns and treatment response in adult H3 K27-altered diffuse midline glioma: a descriptive review and single center case series
- Pediatric Extraspinal Sacrococcygeal Ependymoma: A Structured Narrative Review of Published Cases and Diagnostic Challenges
- Astrocyte and Microglial Transcriptional Programs in the Atypical Teratoid/Rhabdoid Tumor Microenvironment
- Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
- Hereditary Angioedema with Normal C1-Inhibitor in Children: Diagnostic Challenges, Novel Mutations in MYOF, F12, and HS3ST6, and the Role of Bioinformatics Analysis
- Cryopreservation techniques for adult and pediatric glioblastoma organoids and their effects on stem cell self-renewal
- Cytomorphological assessment of buccal mucosal epithelial cells in Sudanese children with sickle cell anaemia: a pilot case-control study