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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2023. (Total: 223792Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Vision and RPGR[original query]
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
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Investigative ophthalmology & visual science 2017 9 58 (11): 4457-4466.
Bellingrath Julia-Sophia, Ochakovski G Alex, Seitz Immanuel P, Kohl Susanne, Zrenner Eberhart, Hanig Nicola, Prokisch Holger, Weber Bernhard H, Downes Susan M, Ramsden Simon, MacLaren Robert E, Fischer M Domin
Exome sequencing study of 20 patients with high myopia.
PeerJ 2018 9 6 e5552.
Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi
[New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2020 5 118 (2): 144-153.
Huchzermeyer Cord, Fars Julien, Stöhr Heidi, Kremers J
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
International journal of molecular sciences 2022 7 23 (13): .
Nassisi Marco, De Bartolo Giuseppe, Mohand-Said Saddek, Condroyer Christel, Antonio Aline, Lancelot Marie-Elise, Bujakowska Kinga, Smirnov Vasily, Pugliese Thomas, Neidhardt John, Sahel José-Alain, Zeitz Christina, Audo Isabel
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific reports 2022 12 12 (1): 20815.
Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand
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