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Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada, Sara; Teixeira-Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luísa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, Rufino; Zanlonghi, Xavier; Defoort-Dhellemmes, Sabine; Smirnov, Vasily; Dhaenens, Claire-Marie; Blanchet, Catherine; Meunier, Isabelle; Marques, João Pedro.
Afiliación
  • Geada S; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, Portugal.
  • Teixeira-Marques F; Department of Otorhinolaryngology, Centro Hospitalar do Tâmega e Sousa (CHTS), 4560-162 Penafiel, Portugal.
  • Teixeira B; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, Portugal.
  • Carvalho AL; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal.
  • Lousan N; Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal.
  • Saraiva J; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal.
  • Murta J; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal.
  • Silva R; Department of Otorhinolaryngology, Centro Hospitalar do Tâmega e Sousa (CHTS), 4560-162 Penafiel, Portugal.
  • Zanlonghi X; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal.
  • Defoort-Dhellemmes S; Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal.
  • Smirnov V; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal.
  • Dhaenens CM; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal.
  • Blanchet C; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, Portugal.
  • Meunier I; Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal.
  • Marques JP; University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal.
Genes (Basel) ; 14(4)2023 03 30.
Article en En | MEDLINE | ID: mdl-37107588
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos del Olfato Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Portugal
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos del Olfato Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Portugal