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Molecular Vision|October 26, 2022
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literatureLachlan S W Knight, Sean Mullany, Deepa A Taranath, et al.
Scientific Reports|June 1, 2016
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degenerationGabriel Cuellar-Partida, Jamie E Craig, Kathryn P Burdon, et al.
Human Mutation|May 11, 2021
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish typeSean Mullany, Emmanuelle Souzeau, Sonja Klebe, et al.
BMJ Open Ophthalmology|September 26, 2022
Pathogenic genetic variants identified in Australian families with paediatric cataractJohanna L Jones, Bennet J McComish, Sandra E Staffieri, et al.
JAMA Ophthalmology|November 10, 2022
Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle GlaucomaOwen M Siggs, Ayub Qassim, Xikun Han, et al.
Human Mutation|October 11, 2022
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panelKathryn P Burdon, Patricia Graham, Johanna Hadler, et al.
American Journal of Ophthalmology|October 7, 2014
Copy number variations of TBK1 in Australian patients with primary open-angle glaucomaMona S Awadalla, John H Fingert, Benjamin E Roos, et al.
Ophthalmic Genetics|December 22, 2017
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucomaKathryn P Burdon, Mona S Awadalla, Paul Mitchell, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucomaTiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, et al.
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