A study conducted by researchers at Baylor College of Medicine and collaborating institutions reveals the molecular events leading to osteogenesis imperfecta type V, a form of brittle bone disease ...
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Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies
Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare ...
Global Burden of Thyroid Cancer in Adults Age 15-49 Years and Its Predictions: Findings From Global Burden of Disease Study 2021 We conducted whole-exome sequencing on 100 (N = 100) tumor-normal ...
The most common genetic cause of hereditary deafness in humans are mutations in the GJB2 gene, especially the 35delG and 235delC mutations. At the recent ARO meeting, researchers from Ear Nose and ...
Phase Ib Study of Unesbulin (PTC596) Plus Dacarbazine for the Treatment of Locally Recurrent, Unresectable or Metastatic, Relapsed or Refractory Leiomyosarcoma Therapy-related myeloid neoplasm (t-MN) ...
Factor V Leiden thrombophilia is a genetic disorder that increases the risk of abnormal blood clot formation. Factor V Leiden thrombophilia is a genetic condition that increases the risk of developing ...
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