Human genetics
961 studies23 in 7 days555 in 30 days
Filters
Latest
961 studies
- Dissecting shared genetic susceptibility between gastroesophageal reflux disease and psychiatric disorders beyond body mass index
- A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome
- Real-World Application of PD-1 Inhibitors in High-Grade Glioma: A Case Series.
- A Glimpse into the Experience of Intraoperative Squash Smear Cytology of Pediatric Space-Occupying Lesions of the Central Nervous System: A Study from North Indian Tertiary Care Center.
- Genome-Wide Association Study of Sepsis Susceptibility in ICU Patients Identifies Arab Founder Loss-of-Function Variant in UBE2L3
- A founder population reveals genetic variation with major effect on serious mental illness
- Clinical history shapes the predictive value of polygenic risk
- Genetic Insights Into Protective Effects of GLP-1 Receptor Agonists on Stroke and Alzheimer Disease Across Ancestries
- Incidence of Birt-Hogg-Dubé Syndrome in a US Population-Based Cohort
- Red blood cell transfusion to treat or prevent complications in sickle cell disease: an overview of Cochrane reviews
- Characterization of Congestive Heart Failure Phenotype in a Murine Model of JAK2V617F-positive Myeloproliferative Neoplasm
- Massive Splenomegaly in an Adult With a Hemoglobin Fractionation Pattern Suggestive of Hereditary Persistence of Fetal Hemoglobin: A Case Report.
- Clonal Hematopoiesis Accelerates Frailty and Functional Decline
- Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort
- Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders
- Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders
- Investigating laboratory capacity and whole genome sequencing practices to inform standardised protocols for bacterial genomic surveillance in Africa.
- Adult Patient Perspectives on Psychiatric Polygenic Risk Scores
- In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL
- mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis
- Unravelling the High-Hemoglobin-F Sickle Cell Disease Phenotype: Studies Among Kuwaiti Patients
- Peripheral Immune Alterations and T Cell Clonal Dynamics Across the Parkinson's Disease Spectrum
- GC801-enabled AAV gene therapy in a neonate with Pompe disease
- A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases
- Direct Pan-Cancer Multi-Omic Analysis of Radiotherapy Response Reveals Coding and Regulatory Genomic Variation, and Extracellular Adaptive Programs Underlying Radioresistance