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Ophthalmic Genetics|July 3, 2019
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial studyMaría José Morillo Sánchez, Pilar Llavero Valero, María González-Del Pozo, et al.
Ophthalmic Genetics|July 5, 2019
Coquille d'oeuf in young patients affected with Pseudoxantoma elasticumVittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, et al.
Ophthalmic Genetics|October 17, 2019
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50Yang Ye, Menghan Wu, Yue Qiao, et al.
Ophthalmic Genetics|April 24, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosaVirginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, et al.
Ophthalmic Genetics|April 30, 2019
Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR geneHortensia Sanchez Tocino, Cecilia Diez Montero, Ana Villanueva Gómez, et al.
Ophthalmic Genetics|April 16, 2019
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian familiesLiqa A Rousan, Abu Baker L Qased, Ziad A Audat, et al.
Ophthalmic Genetics|July 19, 2018
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)Arif O Khan
Ophthalmic Genetics|June 9, 2018
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IICNian Zhang, Juan Wang, Shuting Liu, et al.
Ophthalmic Genetics|June 28, 2018
The association of matrix metalloproteinases polymorphisms and interleukins in advanced age-related macular degenerationBrigita Budiene, Rasa Liutkeviciene, Olivija Gustiene, et al.
Ophthalmic Genetics|June 28, 2018
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophyGiovanna Alfano, Naushin H Waseem, Andrew R Webster, et al.
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