Records 1 - 4
| 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
| 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
| Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
Molecular vision 2007 13 (): 287-92.
Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora