Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Counseling and EYS[original query] |
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High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa. Investigative ophthalmology & visual science 2012 Feb 53 (2): 1033-40. Iwanami Masaki, Oshikawa Mio, Nishida Tomomi, Nakadomari Satoshi, Kato Seis |
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 |
A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2023 8 27 (8): 258-266. Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi S |
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2023 3 2 (3): pgad043. Peter Virginie G, Kaminska Karolina, Santos Cristina, Quinodoz Mathieu, Cancellieri Francesca, Cisarova Katarina, Pescini Gobert Rosanna, Rodrigues Raquel, Custódio Sónia, Paris Liliana P, Sousa Ana Berta, Coutinho Santos Luisa, Rivolta Car |
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