The NANOS Annual Meeting Neuro-Ophthalmology Collection: Presentations from the annual meeting of the North American Neuro-Ophthalmology Society (NANOS), a professional organization of more than 600 members who are fully trained ophthalmologists or neurologists. Contains records from the first meeting in 1975 to the present.
NOVEL: https://novel.utah.edu/
TO
Filters: Collection: ehsl_novel_nam
1 - 25 of 3
| Title | Creator | Description | Identifier | ||
|---|---|---|---|---|---|
| 1 |
 |
The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (Slides) | Neringa Jurkute, Gavin Arno, Amy Slater, Nikolas Pontikos, Marcela Votruba, Savita Nutan, Andrew Webster, Patrick Yu-Wai-Man | Inherited optic neuropathies (ION) are a genetically heterogeneous group of disorders characterised by progressive and irreversible loss of retinal ganglion cells. Reaching a confirmed molecular diagnosis can be challenging given the number of disease-associated genes that have been identified withi... | 20200310_nanos_sciplatform3_02-slides |
| 2 |
 |
The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (PDF) | Neringa Jurkute, Gavin Arno, Amy Slater, Nikolas Pontikos, Marcela Votruba, Savita Nutan, Andrew Webster, Patrick Yu-Wai-Man | Inherited optic neuropathies (ION) are a genetically heterogeneous group of disorders characterised by progressive and irreversible loss of retinal ganglion cells. Reaching a confirmed molecular diagnosis can be challenging given the number of disease-associated genes that have been identified withi... | 20200310_nanos_sciplatform3_02-pdf |
| 3 |
 |
The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (Video) | Neringa Jurkute, Gavin Arno, Amy Slater, Nikolas Pontikos, Marcela Votruba, Savita Nutan, Andrew Webster, Patrick Yu-Wai-Man | Inherited optic neuropathies (ION) are a genetically heterogeneous group of disorders characterised by progressive and irreversible loss of retinal ganglion cells. Reaching a confirmed molecular diagnosis can be challenging given the number of disease-associated genes that have been identified withi... | 20200310_nanos_sciplatform3_02 |
1 - 25 of 3