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Functional evidence of mTORß splice variant involvement in the pathogenesis of congenital heart defects.
Gentile, Mattia; Ranieri, Carlotta; Loconte, Daria C; Ponzi, Emanuela; Ficarella, Romina; Volpe, Paolo; Scalzo, Gabriele; Lepore Signorile, Martina; Grossi, Valentina; Cordella, Angela; Ventola, Giovanna Maria; Susca, Francesco C; Turchiano, Antonella; Simone, Cristiano; Resta, Nicoletta.
Afiliación
  • Gentile M; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy.
  • Ranieri C; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari "Aldo Moro", Bari, Italy.
  • Loconte DC; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari "Aldo Moro", Bari, Italy.
  • Ponzi E; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy.
  • Ficarella R; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy.
  • Volpe P; Department of Human Reproductive Medicine, Fetal Medicine Unit, ASL Bari, Bari, Italy.
  • Scalzo G; Department of Pediatric Sciences, Pediatric Cardiac Surgery Unit, Giovanni XXIII Pediatric Hospital, Bari, Italy.
  • Lepore Signorile M; Medical Genetics, National Institute of Gastroenterology "S. de Bellis" Research Hospital, Castellana Grotte, Bari, Italy.
  • Grossi V; Medical Genetics, National Institute of Gastroenterology "S. de Bellis" Research Hospital, Castellana Grotte, Bari, Italy.
  • Cordella A; Genomix4Life SRL, Via S. Allende 84081, Baronissi, Italy.
  • Ventola GM; Genomix4Life SRL, Via S. Allende 84081, Baronissi, Italy.
  • Susca FC; Department of Human Reproductive Medicine, Medical Genetics Unit, ASL Bari, Bari, Italy.
  • Turchiano A; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari "Aldo Moro", Bari, Italy.
  • Simone C; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari "Aldo Moro", Bari, Italy.
  • Resta N; Medical Genetics, National Institute of Gastroenterology "S. de Bellis" Research Hospital, Castellana Grotte, Bari, Italy.
Clin Genet ; 99(3): 425-429, 2021 03.
Article en En | MEDLINE | ID: mdl-33236357
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Texto completo: 1 Colección: 01-internacional Asunto principal: Predisposición Genética a la Enfermedad / Serina-Treonina Quinasas TOR / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Female / Humans / Infant Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Predisposición Genética a la Enfermedad / Serina-Treonina Quinasas TOR / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Female / Humans / Infant Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia