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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
Cavallin, Mara; Hubert, Laurence; Cantagrel, Vincent; Munnich, Arnold; Boddaert, Nathalie; Vincent-Delorme, Catherine; Cuvellier, Jean Christophe; Masson, Cecile; Besmond, Claude; Bahi-Buisson, Nadia.
  • Cavallin M; Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
  • Hubert L; Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France.
  • Cantagrel V; Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
  • Munnich A; Translational Genetics, INSERM UMR-1163, Paris, France.
  • Boddaert N; Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
  • Vincent-Delorme C; Laboratory of Neurogenetics, INSERM UMR-1163, Paris, France.
  • Cuvellier JC; Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
  • Masson C; Translational Genetics, INSERM UMR-1163, Paris, France.
  • Besmond C; Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France.
  • Bahi-Buisson N; Departments of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.
Neurogenetics ; 17(1): 79-82, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26384676
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cinesinas / Lisencefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cinesinas / Lisencefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article