Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Retinal Degeneration and GUCY2D[original query] |
---|
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Investigative ophthalmology & visual science 2007 Sep 48 (9): 4284-90. Simonelli Francesca, Ziviello Carmela, Testa Francesco, Rossi Settimio, Fazzi Elisa, Bianchi Paolo Emilio, Fossarello Maurizio, Signorini Sabrina, Bertone Chiara, Galantuomo Silvana, Brancati Francesco, Valente Enza Maria, Ciccodicola Alfredo, Rinaldi Ernesto, Auricchio Alberto, Banfi Sand |
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PloS one 2013 8 (1): 1. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM |
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 |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: