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EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema, Renske; McGillivray, George; Leventer, Richard; Le Moing, Anne-Gaëlle; Bahi-Buisson, Nadia; Barnicoat, Angela; Mandelstam, Simone; Francis, David; Francis, Fiona; Mancini, Grazia M S; Savelberg, Sanne; van Haaften, Gijs; Mankad, Kshitij; Lequin, Maarten H.
Afiliación
  • Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Leventer R; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and, University of Melbourne Department of Pediatrics, Melbourne, Australia.
  • Le Moing AG; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Bahi-Buisson N; Department of Child Neurology, CHU Amiens, Paris, France.
  • Barnicoat A; Université Paris Descartes, Sorbonne Paris Cités, Paris, France.
  • Mandelstam S; Embryology and genetics of congenital malformations, Institut Imagine-INSERM, Paris, France.
  • Francis D; Pediatric Neurology, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Francis F; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Mancini GMS; Royal Children's Hospital, Department of Pediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.
  • Savelberg S; Royal Children's Hospital, Department of Radiology, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.
  • van Haaften G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Mankad K; INSERM U 1270, Paris, France.
  • Lequin MH; Sorbonne Université, UMR-S 1270, Paris, France.
Am J Med Genet C Semin Med Genet ; 181(4): 627-637, 2019 12.
Article en En | MEDLINE | ID: mdl-31710781
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos