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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 11, 2024. (Total: 234291Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Vision and CNGB3[original query]
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Ophthalmology 2009 Jul .
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012 Apr 119 (4): 819-26.
Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew
Novel CNGA3 mutations in Chinese patients with achromatopsia.
The British journal of ophthalmology 2015 Apr 99 (4): 571-6.
Liang Xiaofang, Dong Fangtian, Li Hui, Li Huajin, Yang Lizhu, Sui Ruifa
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct .
Hafler Brian
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Molecular vision 2020 9 26 588-602.
Sun Wenmin, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Zhang Qingjio
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Investigative ophthalmology & visual science 2024 8 65 (10): 40.
Pam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, Adriana I Iglesias Gonzales, Carel B Hoyng, Jan Willem R Pott, Hester Y Kroes, Mary J van Schooneveld, Camiel J F Boon, Maria M van Genderen, Astrid S Plomp, Yvonne de Jong-Hesse, Michelle B van Egmond-Ebbeling, Lies H Hoefsloot, Arthur A Bergen, Caroline C W Klaver, Magda A Meester-Smoor, Alberta A H J Thiadens, Virginie J M Verhoev
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