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The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.
Lameiras, Ana Rita; Gonçalves, Ana Cláudia; Santos, Ricardo; O'Neill, Assunção; Reis, Luís Roque Dos; Matos, Tiago Daniel; Fialho, Graça; Caria, Helena; Escada, Pedro.
Afiliación
  • Lameiras AR; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Lisbon, Portugal; NMS/UNL, Department of Otorhinolaryngology, Nova Medical School, New University of Lisbon, Lisbon, Portugal.
  • Gonçalves AC; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Lisbon, Portugal. Electronic address: Claudiagoncalves030@gmail.com.
  • Santos R; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Lisbon, Portugal; NMS/UNL, Department of Otorhinolaryngology, Nova Medical School, New University of Lisbon, Lisbon, Portugal.
  • O'Neill A; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Lisbon, Portugal; NMS/UNL, Department of Anatomy, Nova Medical School, New University of Lisbon, Lisbon, Portugal.
  • Reis LR; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Lisbon, Portugal; NMS/UNL, Department of Otorhinolaryngology, Nova Medical School, New University of Lisbon, Lisbon, Portugal.
  • Matos TD; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Lisbon, Portugal.
  • Fialho G; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Lisbon, Portugal.
  • Caria H; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Lisbon, Portugal; ESS/IPS, School of Health, Polytechnic Institute of Setúbal, Setúbal, Portugal.
  • Escada P; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Lisbon, Portugal; NMS/UNL, Department of Otorhinolaryngology, Nova Medical School, New University of Lisbon, Lisbon, Portugal.
Int J Pediatr Otorhinolaryngol ; 79(8): 1316-9, 2015 Aug.
Article en En | MEDLINE | ID: mdl-26117665
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Conexinas / Mutación Missense / Genotipo / Pérdida Auditiva Bilateral / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2015 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Conexinas / Mutación Missense / Genotipo / Pérdida Auditiva Bilateral / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2015 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Irlanda