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Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu, Qiuyan; Wang, Haiqiao; Zhao, Jianhui; Liu, Zhicui; Sun, Dianrong; Yuan, Aiyun; Luo, Guangjin; Wei, Wei; Hou, Mei.
Afiliação
  • Liu Q; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Wang H; Department of Traditional Chinese Medicine, School of Medicine, Ren Ji Hospital, Shanghai Jiaotong University, Shanghai, P.R. China.
  • Zhao J; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Liu Z; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Sun D; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Yuan A; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Luo G; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
  • Wei W; Kangso Medical Inspection Co., Ltd, Beijing, P.R. China.
  • Hou M; Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, P.R. China.
Int J Dev Neurosci ; 80(6): 455-463, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32233090
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2020 Tipo de documento: Article