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Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Galatolo, Daniele; Trovato, Rosanna; Scarlatti, Arianna; Rossi, Salvatore; Natale, Gemma; De Michele, Giovanna; Barghigiani, Melissa; Cioffi, Ettore; Filla, Alessandro; Bilancieri, Giusi; Casali, Carlo; Santorelli, Filippo M; Silvestri, Gabriella; Tessa, Alessandra.
Afiliación
  • Galatolo D; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Trovato R; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Scarlatti A; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Rossi S; Laboratory of Biology, BIO@SNS, Scuola Normale Superiore, Pisa, Italy.
  • Natale G; UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
  • De Michele G; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Barghigiani M; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Cioffi E; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Filla A; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy.
  • Bilancieri G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Casali C; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Santorelli FM; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy.
  • Silvestri G; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy. filippo3364@gmail.com.
  • Tessa A; UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Neurogenetics ; 24(3): 147-160, 2023 07.
Article en En | MEDLINE | ID: mdl-37131039
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Italia