Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Syndrome and EYS[original query] |
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104. Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo |
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. Journal of human genetics 2014 Sep 59 (9): 521-8. Zhao Yang, Hosono Katsuhiro, Suto Kimiko, Ishigami Chie, Arai Yuuki, Hikoya Akiko, Hirami Yasuhiko, Ohtsubo Masafumi, Ueno Shinji, Terasaki Hiroko, Sato Miho, Nakanishi Hiroshi, Endo Shiori, Mizuta Kunihiro, Mineta Hiroyuki, Kondo Mineo, Takahashi Masayo, Minoshima Shinsei, Hotta Yoshihi |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Nov 55 (11): 7369-75. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci. Physiological research / Academia Scientiarum Bohemoslovaca 2016 Aug . Stránecký V, Ne?oldová M, Hoda?ová K, Hartmannová H, Piherová L, Zemánková P, P?istoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
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