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Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Majander, Anna; Sankila, Eeva-Marja; Falck, Aura; Vasara, Laura Kristiina; Seitsonen, Sanna; Kulmala, Maarit; Haavisto, Anna-Kaisa; Avela, Kristiina; Turunen, Joni A.
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  • Majander A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Sankila EM; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Falck A; Department of Ophthalmology, PEDEGO Research Unit and Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland.
  • Vasara LK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Seitsonen S; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Kulmala M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Haavisto AK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Avela K; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Acta Ophthalmol ; 101(2): 215-221, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36128853
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofias Retinianas Tipo de estudio: Observational_studies / Prognostic_studies / Systematic_reviews Límite: Child, preschool / Humans Idioma: En Revista: Acta Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofias Retinianas Tipo de estudio: Observational_studies / Prognostic_studies / Systematic_reviews Límite: Child, preschool / Humans Idioma: En Revista: Acta Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Finlandia