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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2023. (Total: 223846Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Vision and RP1[original query]
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Genetic testing and molecular biomarkers 2018 2 22 (2): 109-114.
Li Shujin, Yang Mu, Liu Wenjing, Liu Yuqing, Zhang Lin, Yang Yeming, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Molecular genetics & genomic medicine 2020 2 8 (4): e1184.
Sun Yan, Li Wei, Li Jian-Kang, Wang Zhuo-Shi, Bai Jin-Yue, Xu Ling, Xing Bo, Yang Wen, Wang Zi-Wei, Wang Lu-Sheng, He Wei, Chen Fa
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific reports 2022 12 12 (1): 20815.
Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand
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