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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
Material Type: Artigo
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Genetic characteristics of retinitis pigmentosa in 1204 Japanese patientsKoyanagi, Yoshito ; Akiyama, Masato ; Nishiguchi, Koji M ; Momozawa, Yukihide ; Kamatani, Yoichiro ; Takata, Sadaaki ; Inai, Chihiro ; Iwasaki, Yusuke ; Kumano, Mikako ; Murakami, Yusuke ; Omodaka, Kazuko ; Abe, Toshiaki ; Komori, Shiori ; Gao, Dan ; Hirakata, Toshiaki ; Kurata, Kentaro ; Hosono, Katsuhiro ; Ueno, Shinji ; Hotta, Yoshihiro ; Murakami, Akira ; Terasaki, Hiroko ; Wada, Yuko ; Nakazawa, Toru ; Ishibashi, Tatsuro ; Ikeda, Yasuhiro ; Kubo, Michiaki ; Sonoda, Koh-HeiJournal of medical genetics, 2019-10, Vol.56 (10), p.662-670 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
| 2 |
Material Type: Artigo
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Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencingSano, Yusuke ; Koyanagi, Yoshito ; Wong, Jing Hao ; Murakami, Yusuke ; Fujiwara, Kohta ; Endo, Mikiko ; Aoi, Tomomi ; Hashimoto, Kazuki ; Nakazawa, Toru ; Wada, Yuko ; Ueno, Shinji ; Gao, Dan ; Murakami, Akira ; Hotta, Yoshihiro ; Ikeda, Yasuhiro ; Nishiguchi, Koji M ; Momozawa, Yukihide ; Sonoda, Koh-Hei ; Akiyama, Masato ; Fujimoto, AkihiroJournal of medical genetics, 2022-11, Vol.59 (11), p.1133-1138 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
| 3 |
Material Type: Artigo
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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseasesGoto, Kensuke ; Koyanagi, Yoshito ; Akiyama, Masato ; Murakami, Yusuke ; Fukushima, Masatoshi ; Fujiwara, Kohta ; Iijima, Hanae ; Yamaguchi, Mitsuyo ; Endo, Mikiko ; Hashimoto, Kazuki ; Ishizu, Masataka ; Hirakata, Toshiaki ; Mizobuchi, Kei ; Takayama, Masakazu ; Ota, Junya ; Sajiki, Ai Fujita ; Kominami, Taro ; Ushida, Hiroaki ; Fujita, Kosuke ; Kaneko, Hiroki ; Ueno, Shinji ; Hayashi, Takaaki ; Terao, Chikashi ; Hotta, Yoshihiro ; Murakami, Akira ; Kuniyoshi, Kazuki ; Kusaka, Shunji ; Wada, Yuko ; Abe, Toshiaki ; Nakazawa, Toru ; Ikeda, Yasuhiro ; Momozawa, Yukihide ; Sonoda, Koh-Hei ; Nishiguchi, Koji MJournal of medical genetics, 2024-07, Vol.61 (7), p.613-620 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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- Retinitis (2)
- Patients (2)
- Population Genetics (2)
- Genetic Testing (2)
- Deoxyribonucleic Acid (1)
- Eye Diseases (1)
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- Disease (1)
- Exons (1)
- Dna (1)
- Autosomal Recessive Inheritance (1)
- Autosomal Dominant Inheritance (1)
- Dna Mutational Analysis (1)
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