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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Sumathipala, Dulika; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde J; Server, Andrés; Corominas, Jordi; Hassel, Bjørnar; Fannemel, Madeleine; Misceo, Doriana; Frengen, Eirik.
Afiliação
  • Sumathipala D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Gilissen C; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Einarsen IH; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
  • Bjørndalen HJ; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Server A; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Corominas J; Section of Neuroradiology, Department of Radiology and Nuclear Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
  • Hassel B; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
  • Fannemel M; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Misceo D; Department of Neurohabilitation and Complex Neurology, Oslo University Hospital, Ullevål, Oslo, Norway.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
BMC Med Genet ; 21(1): 96, 2020 05 07.
Article em En | MEDLINE | ID: mdl-32381069
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Proteínas de Ciclo Celular / Morte Súbita / Epilepsia / Doenças Renais Císticas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Proteínas de Ciclo Celular / Morte Súbita / Epilepsia / Doenças Renais Císticas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article