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Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.
Knuutinen, Oula; Pyle, Angela; Suo-Palosaari, Maria; Duff, Jennifer; Froukh, Tawfiq; Lehesjoki, Anna-Elina; Kangas, Salla M; Cassidy, James; Maraqa, Latifa; Keski-Filppula, Riikka; Kokkonen, Hannaleena; Uusimaa, Johanna; Horvath, Rita; Vieira, Päivi.
Afiliación
  • Knuutinen O; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Pyle A; Medical Research Center, University of Oulu, Oulu, Finland.
  • Suo-Palosaari M; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Duff J; Medical Research Center, University of Oulu, Oulu, Finland.
  • Froukh T; Department of Diagnostic Radiology, Research Unit of Medical Imaging, Physics and Technology, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Lehesjoki AE; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Kangas SM; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.
  • Cassidy J; Folkhälsan Research Center and Medicum, University of Helsinki, Helsinki, Finland.
  • Maraqa L; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Keski-Filppula R; Medical Research Center, University of Oulu, Oulu, Finland.
  • Kokkonen H; Biocenter Oulu, University of Oulu, Oulu, Finland.
  • Uusimaa J; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Horvath R; PKU & Genetic Consultation Clinic, Amman, Jordan.
  • Vieira P; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Clin Genet ; 98(5): 493-498, 2020 11.
Article en En | MEDLINE | ID: mdl-32779182
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / ARN Polimerasa I / Factores Asociados con la Proteína de Unión a TATA / Factor de Transcripción TFIID / Epilepsia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / ARN Polimerasa I / Factores Asociados con la Proteína de Unión a TATA / Factor de Transcripción TFIID / Epilepsia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Finlandia