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Ophthalmic Genetics|February 14, 2025
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriersRebecca Clark, Haider Sarwar, Leland Wong, et al.
Ophthalmic Genetics|January 24, 2025
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastomaMahsa Fakeri, Fatemeh Shakoul, Seyyed Mohammad Yaghoubi, et al.
Ophthalmic Genetics|January 27, 2025
Whole genome sequencing of 10 families with optic disc drusenAlvilda H Steensberg, Chris Ovens, Clare L Fraser, et al.
Ophthalmic Genetics|February 10, 2025
Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literatureMaša Koce, Ana Fakin, Špela Markelj, et al.
Ophthalmic Genetics|January 21, 2025
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam imagesOwen Cruz-Abrams, Ricardo Dodds Rojas, David H Abramson
Ophthalmic Genetics|November 11, 2024
Clinical and genetic characteristics of simple central serous chorioretinopathy according to ageTaiyo Shijo, Ayumi Fukui, Yoichi Sakurada, et al.
Ophthalmic Genetics|November 12, 2024
Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid useKathryn Abe-Ridgway, Michael A Puente
Ophthalmic Genetics|October 29, 2024
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutationKarim Sleiman, Souha Allam, Dany Akiki, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of CEP250 gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Ophthalmic Genetics|November 26, 2024
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndromeYu Tian, Xiao-Xia Zhou, Su-Zhou Zhao, et al.
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