Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinitis Pigmentosa and TULP1[original query] |
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Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PloS one 2014 9 (9): e108721. Katagiri Satoshi, Akahori Masakazu, Sergeev Yuri, Yoshitake Kazutoshi, Ikeo Kazuho, Furuno Masaaki, Hayashi Takaaki, Kondo Mineo, Ueno Shinji, Tsunoda Kazushige, Shinoda Kei, Kuniyoshi Kazuki, Tsurusaki Yohinori, Matsumoto Naomichi, Tsuneoka Hiroshi, Iwata Takes |
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. Acta ophthalmologica 2019 May . Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii |
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