Title | Creator | Description | Subject | ||
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Genetic Causes of Isolated Optic Neuropathy | Kathleen Ho; Devin Mackay | Overview of isolated genetic optic neuropathies and their neuro-ophthalmic manifestations with an illustrative case example and discussion of clinical presentation, relevant biochemistry, and testing. | Genetics; Hereditary; MFN2; NDUFV1; OPA1; OPA3; Optic Atrophy; Optic Neuropathy; POLG; SPG7; WFS1 |
2 |
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Bardet-Biedl Syndrome | Gregory P. Van Stavern, MD | PowerPoint discussing Bardet-Biedl Syndrome, a hereditary condition characterized by rod-cone dystrophy (RP), truncal obesity, polydactyly, hypogonadotropic hypogonadism (males), GU abnormalities (females), and cognitive impairment | Bardet-Biedl Syndrome; Genetics |
3 |
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Genetic Information Nondiscrimination Act of 2008 | Senate and House of Representatives of the United States of America in Congress | Law to prohibit discrimination on the basis of genetic information with respect to health insurance and employment. | Genetics |