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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata, Valentina; Guarnaccia, Maria; Morello, Giovanna; Ruggieri, Martino; Polizzi, Agata; Cavallaro, Sebastiano.
Afiliação
  • La Cognata V; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Guarnaccia M; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Morello G; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU "Policlinico", PO "G. Rodolico", 95123 Catania, Italy.
  • Polizzi A; Department of Educational Sciences, University of Catania, 95124 Catania, Italy.
  • Cavallaro S; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
Int J Mol Sci ; 22(18)2021 Sep 17.
Article em En | MEDLINE | ID: mdl-34576242
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças por Armazenamento dos Lisossomos / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças por Armazenamento dos Lisossomos / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2021 Tipo de documento: Article