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Type 2D was established in 2002 when a study looking to find mutations in the human version of the SNAI2 gene, known to cause depigmentation in mice, found deletions of both copies of this gene in two unrelated individuals with Waardenburg syndrome type 2. Mutations in both copies of this gene have not been found in those with Waardenburg ...
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
OhioHealth Riverside Methodist Hospital is the largest member hospital of OhioHealth, a not-for-profit, faith-based healthcare system located in Columbus, Ohio.. As a regional tertiary care hospital, Riverside Methodist is host to a number of specialty centers and services, including Neuroscience and Stroke, Heart and Vascular, Maternity and Women's Health, Cancer Care, Trauma Center II, Hand ...
MWS and LWS cones are most responsible for visual acuity as they are concentrated in the fovea centralis region of the retina, which constitutes the very center of the visual field. Blue cone monochromacy is a severe condition in which the cones sensitive to red or green light are missing or defective, and only S-cones sensitive to blue light ...
The Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (commonly shortened to just The James) is part of The Ohio State University Wexner Medical Center and is one of the National Cancer Institute's Comprehensive Cancer Centers. [3] It is named after the founder Arthur G. James and is located in Columbus, Ohio, United States.
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OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. In human, the OCA2 gene is located on the long (q) arm of chromosome 15 between positions 12 and 13.1. The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.