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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Harding, Brian N; Moccia, Amanda; Drunat, Séverine; Soukarieh, Omar; Tubeuf, Hélène; Chitty, Lyn S; Verloes, Alain; Gressens, Pierre; El Ghouzzi, Vincent; Joriot, Sylvie; Di Cunto, Ferdinando; Martins, Alexandra; Passemard, Sandrine; Bielas, Stephanie L.
  • Harding BN; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Moccia A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Drunat S; Département de Génétique, Protect, Hôpital Robert Debré, Paris 75019, France; INSERM U1141, Hôpital Robert Debré, Paris 75019, France.
  • Soukarieh O; INSERM U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen 76183, France.
  • Tubeuf H; INSERM U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen 76183, France; Interactive Biosoftware, Rouen 76000, France.
  • Chitty LS; Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London WC1N 1EH, UK.
  • Verloes A; Département de Génétique, Protect, Hôpital Robert Debré, Paris 75019, France; INSERM U1141, Hôpital Robert Debré, Paris 75019, France.
  • Gressens P; INSERM U1141, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot, Hôpital Robert Debré, Paris 75019, France; Center for Developing Brain, King's College, St. Thomas' Campus, London WC2R 2LS, UK.
  • El Ghouzzi V; INSERM U1141, Hôpital Robert Debré, Paris 75019, France.
  • Joriot S; Service de Neuropédiatrie, Centre Hospitalier Régional Universitaire de Lille, Lille 59037, France.
  • Di Cunto F; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
  • Martins A; Interactive Biosoftware, Rouen 76000, France.
  • Passemard S; Département de Génétique, Protect, Hôpital Robert Debré, Paris 75019, France; INSERM U1141, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot, Hôpital Robert Debré, Paris 75019, France.
  • Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address: sbielas@umich.edu.
Am J Hum Genet ; 99(2): 511-20, 2016 Aug 04.
Article en En | MEDLINE | ID: mdl-27453579
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Péptidos y Proteínas de Señalización Intracelular / Genes Recesivos / Microcefalia / Neuronas Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Péptidos y Proteínas de Señalización Intracelular / Genes Recesivos / Microcefalia / Neuronas Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article