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Researchers have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.
Using a new computational approach developed to analyse large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues including the University of Bristol, have discovered previously unknow
Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.
New York, NY (PRWEB) March 16, 2023 -- New York, NY (March 16, 2023) – Using a new computational approach they developed to analyze large genetic datasets
Patients with head and neck cancer who have equivocal results on routine p16 assay for HPV should be tested again with a test that measures HPV DNA, say researchers.