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Ophthalmic Genetics|July 16, 2005
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspectiveDennis W Schultz, Richard G Weleber, Gus Lawrence, et al.Ophthalmic Genetics|June 9, 2021
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndromeToshiaki Asano, Kazuma Oku, Hiroyuki KondoOphthalmic Genetics|June 28, 2022
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndromeRussell Simmers, Allison Goodwin, Hind Al Saif, et al.Ophthalmic Genetics|June 30, 2022
Multimodal image alignment aids in the evaluation and monitoring of sector retinitis pigmentosaJames T Kwan, David J RamseyOphthalmic Genetics|November 28, 2022
Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degenerationNoy Ashkenazy, Jesse D Sengillo, Prashanth G Iyer, et al.Ophthalmic Genetics|November 24, 2022
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiencyJeannette Y Stallworth, David R Blair, Anne Slavotinek, et al.Ophthalmic Genetics|January 25, 2023
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, et al.Ophthalmic Genetics|July 8, 2022
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophyAaron Z Priluck, Mark P BreazzanoOphthalmic Genetics|June 23, 2021
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosisFabiana Louise Motta, Rafael Filippelli-Silva, Joao Paulo Kitajima, et al.Ophthalmic Genetics|July 5, 2021
Spontaneous resolution of schitic cavities in XLRSThomas G Campbell, James Elder, Jon RuddlePageof 185