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Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Hussain, Hafiz Muhammad Jafar; Wang, Meng; Huang, Austin; Schmidt, Ryan; Qian, Xinye; Yang, Paul; Marra, Molly; Li, Yumei; Pennesi, Mark E; Chen, Rui.
Afiliação
  • Hussain HMJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wang M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Huang A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schmidt R; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Qian X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yang P; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
  • Marra M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Li Y; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
  • Pennesi ME; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
  • Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Genes (Basel) ; 14(2)2023 02 09.
Article em En | MEDLINE | ID: mdl-36833373

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Exoma Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Exoma Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Suíça