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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed, Hisham; Nicouleau, Michaël; Barcia, Giulia; Medina-Cano, Daniel; Siquier-Pernet, Karine; Bole-Feysot, Christine; Parisot, Mélanie; Masson, Cécile; Nitschké, Patrick; Rio, Marlène; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Boddaert, Nathalie; Colleaux, Laurence; Cantagrel, Vincent.
Afiliación
  • Megahed H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo, 12311, Egypt.
  • Nicouleau M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.
  • Barcia G; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Medina-Cano D; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.
  • Siquier-Pernet K; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Bole-Feysot C; Department of Genetics, Necker Enfants Malades University Hospital, APHP, 75015, Paris, France.
  • Parisot M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.
  • Masson C; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Nitschké P; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.
  • Rio M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Bahi-Buisson N; Genomic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.
  • Desguerre I; Genomic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.
  • Munnich A; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.
  • Boddaert N; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Citée University, Imagine Institute, 75015, Paris, France.
  • Colleaux L; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Cantagrel V; Imagine Institute, INSERM UMR 1163, Genetics of mitochondrial diseases, 75015, Paris, France.
Orphanet J Rare Dis ; 11(1): 57, 2016 05 04.
Article en En | MEDLINE | ID: mdl-27146152
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atrofia / Discapacidades del Desarrollo / Análisis de Secuencia de ADN / Exoma / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atrofia / Discapacidades del Desarrollo / Análisis de Secuencia de ADN / Exoma / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article