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Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Wallis, Mathew; Baumer, Alessandra; Smaili, Wiam; Jaouad, Imane Cherkaoui; Sefiani, Abdelaziz; Jacobson, Erica; Bowyer, Lucy; Mowat, David; Rauch, Anita.
Afiliação
  • Wallis M; Clinical Genetics Service, Austin Health, Heidelberg, Victoria, Australia; Department of Medicine, Austin Health, University of Melbourne, Australia. Electronic address: mathew.wallis@austin.org.au.
  • Baumer A; Institute of Medical Genetics, University of Zurich, Australia.
  • Smaili W; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
  • Jaouad IC; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
  • Sefiani A; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
  • Jacobson E; Department of Paediatric Neurosurgery, Sydney Children's Hospital, Randwick, New South Wales, Australia.
  • Bowyer L; School of Women's and Children's Health, University of New South Wales, Australia; Department of Maternal-Fetal Medicine, Royal Women's Hospital, Randwick, New South Wales, Australia.
  • Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Australia.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Australia.
Eur J Med Genet ; 61(4): 189-196, 2018 Apr.
Article em En | MEDLINE | ID: mdl-29225145
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Hidrocefalia / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda
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: Peptídeos e Proteínas de Sinalização Intracelular / Hidrocefalia / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda