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Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
Xie, Zhiying; Sun, Chengyue; Liu, Yilin; Yu, Meng; Zheng, Yiming; Meng, Lingchao; Wang, Gao; Cornejo-Sanchez, Diana M; Bharadwaj, Thashi; Yan, Jin; Zhang, Lingxiang; Pineda-Trujillo, Nicolas; Zhang, Wei; Leal, Suzanne M; Schrauwen, Isabelle; Wang, Zhaoxia; Yuan, Yun.
Afiliação
  • Xie Z; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Sun C; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Liu Y; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Yu M; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Zheng Y; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Meng L; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Wang G; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Cornejo-Sanchez DM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Bharadwaj T; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Yan J; Science and Technology, Beijing Epigen Medical Technology Inc, Beijing, China.
  • Zhang L; Science and Technology, Beijing Epigen Medical Technology Inc, Beijing, China.
  • Pineda-Trujillo N; Grupo Mapeo Genetico, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.
  • Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA is2632@cumc.columbia.edu drwangzx@163.com yuanyun2002@126.com.
  • Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China is2632@cumc.columbia.edu drwangzx@163.com yuanyun2002@126.com.
  • Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China is2632@cumc.columbia.edu drwangzx@163.com yuanyun2002@126.com.
J Med Genet ; 58(11): 743-751, 2021 11.
Article em En | MEDLINE | ID: mdl-32978268
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China