Genetics & genomics
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3,226 studies
- Case Report: Pediatric osteogenesis imperfecta type 1: a pedigree report and literature review
- Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management
- Fracture outcomes following intravenous pamidronate initiation in children with osteogenesis imperfecta: a multicenter retrospective cohort study from Bucharest, Romania
- Leveraging genomic deep learning models for the prediction of noncoding variant effects
- Willingness to adopt gene therapy for Duchenne muscular dystrophy: barriers, facilitators, and multidisciplinary readiness
- The spread of genomics
- Hybrid species evolution between cryptic and sympatric weevil species
- Unilateral Congenital Ptosis Is Associated With Impaired Binocular Vision and Reduced Contrast Sensitivity in Children
- Ovarian sex cord-stromal tumors are part of the BAP1-tumor predisposition syndrome: evidence from human carriers and mouse models.
- Clinical characteristics and phenotypes of inflammatory bowel disease in Northern Central America: initial results from the Northern Central America Inflammatory Bowel Disease Registry.
- Historical and Contemporary Management of Genetic Diversity in French Local Horse Breeds: Insights from Genomic Data
- Climate-associated genomic variation across life stages reveals population-specific signals of local adaptation in European beech
- RNA-sequencing of butyrate-treated human lymphoblastoid cell lines shows dysregulated genes of multiple disease-related pathways
- Calibration of AlphaGenome Variant Impact and SpliceAI2 scores as PP3/BP4 evidence for missense, non-coding, and synonymous variants
- Relaxed evolutionary constraints on mitochondrial electron-transfer-associated variants in human cancers
- Micro-C-TALE: BAC-based targeted high-resolution measurement of 3D chromatin interactions
- RNA m6A mediates de novo DNA methylation and heritable epigenetic silencing in human cells
- Systematic mapping of the prokaryotic noncoding sequence space with a genomic language model
- Panagram reveals pangenome architectures underlying trait variation in plants and animals
- Systematic Functional Interrogation of Neurodevelopmental Disorder Risk Variants
- Association of ADRB2 Gene Polymorphisms with Sporting Ability and Human Body Functions: A Literature Review.
- Genome-Wide Association Mapping of Low-Nitrogen Tolerance in Hexaploid Oat Identifies a Suggestive Candidate Locus near P5CDH Associated with Root Dry Weight.
- Estimation of Genomic Breeding Values for Economic Traits in Alxa-Type Cashmere Goats Using Bayesian Methods.
- The Migration-Mortality Hypothesis Requires Reproductive Compensation Not in Evidence.
- Genetic Insights into the Comorbidity of Congenital Heart Disease and Neurodevelopmental Disorders: Focus on Copy Number Variations.