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Ophthalmic Genetics|June 9, 2020
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodelingShaza N Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, et al.
Ophthalmic Genetics|May 13, 2020
A novel c.287G>T NDP missense mutation in a Chinese family with Norrie diseaseMeina Lin, Yongping Lu, Yu Sui, et al.
Ophthalmic Genetics|November 7, 2022
Congenital corneal staphyloma in 8q21.11 microdeletion syndromeElena Franco, Hannah L Scanga, Soosan Jacob, et al.
Ophthalmic Genetics|November 7, 2022
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastomaShreya Sirivolu, Liya Xu, Mikako Warren, et al.
Ophthalmic Genetics|April 13, 2005
Mitochondrial T9957C mutation in association with NAION and seizures but not MELASKhaled K Abu-Amero, Thomas M Bosley, Saeed Bohlega, et al.
Ophthalmic Genetics|April 13, 2005
Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3qLília Maria de Azevedo Moreira, Fátima Bittencourt Neri, Sheila de Quadros Uzeda, et al.
Ophthalmic Genetics|April 13, 2005
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pterAmy C Cohn, Lisa S Kearns, Ravi Savarirayan, et al.
Ophthalmic Genetics|March 18, 2006
Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patientsLa-Ongsri Atchaneeyasakul, Adisak Trinavarat, Dhaivadee Dulayajinda, et al.
Ophthalmic Genetics|March 18, 2006
Atrophic chorioretinal scar and focal scleral bowing following thermochemotherapy with a diode laser for retinoblastomaPim de Graaf, Jonas A Castelijns, Annette C Moll, et al.
Ophthalmic Genetics|July 16, 2005
Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophyVera L Bonilha, Joe G Hollyfield, Sandeep Grover, et al.
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