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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2023. (Total: 223599Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Vision and BEST1[original query]
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21.
Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
Retinal cases & brief reports 2018 10 15 (4): 356-358.
Shah Saumya M, Schimmenti Lisa A, Marmorstein Alan D, Bakri Sophie
Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report.
European journal of ophthalmology 2023 9 11206721231199850.
Nicolò Ribarich, Maria Chiara Rivolta, Riccardo Sacconi, Giuseppe Querqu
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