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1
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
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Artigo 		Adicionar ao Meu Espaço

Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing

Sano, 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, Akihiro

Journal of medical genetics, 2022-11, Vol.59 (11), p.1133-1138 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
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Artigo 		Adicionar ao Meu Espaço

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

Koyanagi, 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-Hei

Journal of medical genetics, 2019-10, Vol.56 (10), p.662-670 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

Passos-Bueno, M R ; Richard, I ; Vainzof, M ; Fougerousse, F ; Weissenbach, J ; Broux, O ; Cohen, D ; Akiyama, J ; Marie, S K ; Carvalho, A A

Journal of medical genetics, 1993-05, Vol.30 (5), p.385-387 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families

Maria Rita Passos-Bueno I Richard; M Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; Suely Kazue Nagahashi Marie; A. A Carvalho; L Guilherme

London v.30, n.5 , p.385-7, 1993 Journal of Medical Genetics

London 1993

Item não circula. Consulte sua biblioteca.(Acessar)

5
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families

Maria Rita Passos-Bueno I Richard; Mariz Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; Suely Kazue Nagahashi Marie; A. A Carvalho; L Guilherme

London v.30, n.5 , p.385-7, 1993 Journal of Medical Genetics

London 1993

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Vainzof, M
  2. Marie, S
  3. Passos-Bueno, M
  4. Richard, I
  5. Guilherme, L

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Retinitis
  5. Genomes

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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