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Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander, Johanna; Ullmark, Tove; Ehrencrona, Hans; Jonson, Tord; Piccinelli, Paul; Samuelsson, Sofie; Löwgren, Karolina; Falkenius-Schmidt, Karolina; Ehinger, Johannes; Stenfeldt, Karin; Värendh, Maria.
Afiliação
  • Elander J; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden. Electronic address: johanna.elander@med.lu.se.
  • Ullmark T; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, 221 85, Lund, Sweden.
  • Ehrencrona H; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, 221 85, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 85, Lund, Sweden.
  • Jonson T; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, 221 85, Lund, Sweden.
  • Piccinelli P; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, 221 85, Lund, Sweden.
  • Samuelsson S; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, 221 85, Lund, Sweden.
  • Löwgren K; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden.
  • Falkenius-Schmidt K; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden.
  • Ehinger J; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden.
  • Stenfeldt K; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden; Lund University, Department of Clinical Sciences Lund, Logopedics, Phoniatrics and Audiology, 221 84, Lund, Sweden.
  • Värendh M; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, 221 84, Lund, Sweden.
Int J Pediatr Otorhinolaryngol ; 159: 111218, 2022 Aug.
Article em En | MEDLINE | ID: mdl-35779349
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Implante Coclear / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Implante Coclear / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article