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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao, Jin J; Halvardson, Jonatan; Zander, Cecilia S; Zaghlool, Ammar; Georgii-Hemming, Patrik; Månsson, Else; Brandberg, Göran; Sävmarker, Helena E; Frykholm, Carina; Kuchinskaya, Ekaterina; Thuresson, Ann-Charlotte; Feuk, Lars.
Afiliación
  • Zhao JJ; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Halvardson J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Zander CS; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Zaghlool A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Georgii-Hemming P; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Månsson E; Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.
  • Brandberg G; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.
  • Sävmarker HE; Pediatric Clinic, Falun, Sweden.
  • Frykholm C; Department of Pediatrics, Gävle Hospital, Gävle, Sweden.
  • Kuchinskaya E; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Thuresson AC; Department of Clinical Genetics, and Department of Clinical Medicine, Linköping University, Linköping, Sweden.
  • Feuk L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Am J Med Genet B Neuropsychiatr Genet ; 177(1): 10-20, 2018 Jan.
Article en En | MEDLINE | ID: mdl-28990276
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Acetiltransferasa A N-Terminal / Acetiltransferasa E N-Terminal / Factores de Empalme de ARN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Asunto de la revista: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Acetiltransferasa A N-Terminal / Acetiltransferasa E N-Terminal / Factores de Empalme de ARN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Asunto de la revista: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Suecia