eLife reviews research including the genetic basis of health and disease, epigenetics, genomics, medical genetics, genetic epidemiology, and population genetics. Learn more about what we review and ...
Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break ...
Genetics data in knowledge base is imported from Open Targets portal, and NHGRI GWAS catalog. The data is formatted to map SNPs level statistics to gene-level statistics i.e. odd-ratio or beta-value.
Methods Two hundred children (100 OI, 100 matched volunteers) were prospectively studied. Aortic and left ventricular (LV) measurements were performed using transthoracic echocardiography. Patients ...
Genetic testing revealed that both she and her father have osteogenesis imperfecta, also known as brittle-bone disease. Now seen by an endocrinologist, she's not alone in having a genetic ...
Jan. 23, 2025 — Researchers have uncovered which genes on the Y chromosome regulate the development of sperm and impact fertility in male mice. This research could help us understand why some ...