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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
D'Gama, Alissa M; Geng, Ying; Couto, Javier A; Martin, Beth; Boyle, Evan A; LaCoursiere, Christopher M; Hossain, Amer; Hatem, Nicole E; Barry, Brenda J; Kwiatkowski, David J; Vinters, Harry V; Barkovich, A James; Shendure, Jay; Mathern, Gary W; Walsh, Christopher A; Poduri, Annapurna.
  • D'Gama AM; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA.
Ann Neurol ; 77(4): 720-5, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25599672
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Transducción de Señal / Malformaciones del Desarrollo Cortical / Serina-Treonina Quinasas TOR / Hemimegalencefalia / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Transducción de Señal / Malformaciones del Desarrollo Cortical / Serina-Treonina Quinasas TOR / Hemimegalencefalia / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article