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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh, Ashley P L; Edwards, Timothy J; Galea, Charles; Cooper, Helen M; Engle, Elizabeth C; Jamuar, Saumya S; Méneret, Aurélie; Moutard, Marie-Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer-Smith, Megan; Trouillard, Oriane; Billette de Villemeur, Thierry; Walsh, Christopher A; Yu, Timothy W; Heron, Delphine; Sherr, Elliott H; Richards, Linda J; Depienne, Christel; Leventer, Richard J; Lockhart, Paul J.
Afiliación
  • Marsh APL; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Edwards TJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Galea C; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
  • Cooper HM; Faculty of Medicine, The University of Queensland, Herston, Brisbane, Australia.
  • Engle EC; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Jamuar SS; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
  • Méneret A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Moutard ML; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Nava C; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • Rastetter A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Robinson G; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Rouleau G; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts.
  • Roze E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Spencer-Smith M; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Trouillard O; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • Billette de Villemeur T; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
  • Walsh CA; Department of Paediatrics, KK Women's and Children's Hospital, Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.
  • Yu TW; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
  • Heron D; Service de Neuropédiatrie, AP-HP, Hôpital Trousseau, Paris, France.
  • Sherr EH; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.
  • Richards LJ; Centre de référence "Neurogénétique", Paris, France.
  • Depienne C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
  • Leventer RJ; Département de Génétique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.
  • Lockhart PJ; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Hum Mutat ; 39(1): 23-39, 2018 01.
Article en En | MEDLINE | ID: mdl-29068161
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Genes DCC / Estudios de Asociación Genética / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Genes DCC / Estudios de Asociación Genética / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia