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Ophthalmic Genetics|May 29, 2014
Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese populationSeigo Yoneyama, Yoichi Sakurada, Fumihiko Mabuchi, et al.
Ophthalmic Genetics|May 29, 2014
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndromeKhaled K Abu-Amero, Altaf A Kondkar, Darren T Oystreck, et al.
Ophthalmic Genetics|February 10, 2026
Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorderCaroline Atef Tawfik, Raghda Zaitoun, Sahar Sabry, et al.
Ophthalmic Genetics|February 10, 2026
Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastomaAnne Merrylees Dersch, Bailey Gallinger, Rosemarie E Venier, et al.
Ophthalmic Genetics|January 22, 2026
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variantsAsmaa Kenawy Amin, Shahira Mahmoud, Mohamed Bahgat Goweida, et al.
Ophthalmic Genetics|November 16, 2022
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataractZhennan Zhao, Jiahui Chen, Wenyi Yuan, et al.
Ophthalmic Genetics|March 22, 2023
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF geneOğuzhan Kılıçarslan, Bilge Batu Oto, Hüseyin Yetik, et al.
Ophthalmic Genetics|March 28, 2023
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patientsKavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, et al.
Ophthalmic Genetics|February 7, 2023
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findingsMichelle M Falcone, Yoon-Hee Chang, Hart Lidov, et al.
Ophthalmic Genetics|February 7, 2023
Expanding the mutational spectrum of FHONDA syndromeMarissa K Shoji, Mohamed M Khodeiry, Jesse D Sengillo, et al.
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