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Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Zhang, Linlin; Gao, Jinshuang; Liu, Hailiang; Tian, Yuan; Zhang, Xiaoli; Lei, Wei; Li, Ying; Guo, Yaqing; Yu, Haiyang; Yuan, Erfeng; Liang, Lisi; Cui, Shihong; Zhang, Xiaoan.
Afiliação
  • Zhang L; Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
  • Gao J; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
  • Liu H; Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
  • Tian Y; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
  • Zhang X; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
  • Lei W; CapitalBio Genomics Co., Ltd., Dongguan, 532808, Guangdong, People's Republic of China.
  • Li Y; Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
  • Guo Y; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
  • Yu H; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
  • Yuan E; Department of Neurologic Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
  • Liang L; CapitalBio Genomics Co., Ltd., Dongguan, 532808, Guangdong, People's Republic of China.
  • Cui S; Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
  • Zhang X; Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People's Republic of China.
Hum Genomics ; 14(1): 44, 2020 12 07.
Article em En | MEDLINE | ID: mdl-33287870
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Epilepsia / Sequenciamento do Exoma / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Genomics Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Epilepsia / Sequenciamento do Exoma / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Genomics Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido