Human genetics
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949 studies
- Conebeam CT of the Temporal Bone: Normative Linear Biometry of Inner Ear Structures
- Decoding the lymphangioleiomyomatosis niche microenvironment via integrative analysis of single cell multiomics and spatial transcriptomics
- Investigating the potential effect of topiramate on anorexia nervosa and binge eating behaviour using drug-target Mendelian randomization
- A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency
- Perspectives of healthcare workers on sickle cell disease in tribal India: insights for strengthening the National Sickle Cell Anaemia Elimination Mission of India
- Diagnostic Challenge of Primary Hepatic PEComa in a Young Woman with Prior Colorectal Cancer
- Shared additive- and variance-associated genetic architecture of cardiac structure and function
- The enigma of nuclear FMRP: facts and myths
- Ineffective behavioral rescue despite partial brain Dp427 restoration by AAV9-U7-mediated exon 51 skipping in mdx52 mice
- Single-Cell Transcriptome-Wide Mendelian Randomization and Colocalization Analysis Reveals Immune Cell-Specific Mechanisms in Alzheimer's Disease
- ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy
- Evolution-guided association mapping using long-read genomes from a self-identified Black or African American cohort in All of Us
- A population-based resource for the prioritization of rare variants of unknown significance in clinical genomics
- Precision neuro-oncology for children: Time to gear up!
- A Global Atlas of Immune Alleles Reveals Health-Relevant Variation Across Groups
- Magnetic resonance imaging evaluation of myocardial and hepatic tissue remodeling and cardiac function in sickle cell anemia
- Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging
- Unravelling the mechanisms of clozapine-induced neutropenia in treatment-resistant schizophrenia using cellular genomics
- Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
- Beyond motor rescue: defining adequate SMN restoration in spinal muscular atrophy.
- Ancient human genomes reveal farmer-pastoralist interactions in the formation of Iron Age Qin people
- Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.
- Shortened Obinutuzumab Infusion Is Safe and Reduces Chair Time in Frontline Treatment of Chronic Lymphocytic Leukemia: A Real-World Study.
- The Role of Genetic Profiling in Pediatric Brain Tumors.
- The JAK2 V617F revolution in myeloproliferative neoplasms.