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Ophthalmic Genetics|April 21, 2018
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutationsNutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, et al.
Ophthalmic Genetics|August 10, 2022
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencingJae Won Jun, Yuri Seo, Sueng-Han Han, et al.
Ophthalmic Genetics|March 17, 2023
A paradigm shift in the treatment of refractory angle closure glaucoma in a patient with X-linked juvenile retinoschisisSirisha Senthil, Deepika C Parameswarappa, Jeyapoorani Balasubramannian
Ophthalmic Genetics|March 1, 2023
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrumCaroline Atef Tawfik, Raghda Zaitoun, Aliaa Ahmed Farag
Ophthalmic Genetics|February 2, 2023
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOXLeyla Yavuz Saricay, Sandra Hoyek, Ayush Ashit Parikh, et al.
Ophthalmic Genetics|February 10, 2023
RPGRIP1-related retinal disease presenting as isolated cone dysfunctionArif O Khan
Ophthalmic Genetics|March 11, 2025
Unusual fundus lesion in mosaic neurofibromatosis type 2Michael H Berry, David F Skanchy, Steven M Archer, et al.
Ophthalmic Genetics|February 27, 2025
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare caseSandra Chandramouli, Minnulekshmi Reghukumar, Kalpana Narendran
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