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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail, Vardha; Zachariassen, Linda G; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L; Baple, Emma; Brown, Kate Tatton; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O; Lyngby, Signe M; Pedersen, Miriam G; Desir, Julie; Bayat, Allan; Musgaard, Maria; Guille, Matthew; Kristensen, Anders S; Baralle, Diana.
Afiliación
  • Ismail V; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK.
  • Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
  • Godwin A; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK.
  • Sahakian M; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Stals KL; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Baple E; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK; University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Brown KT; South-West Thames Clinical Genetics Service, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Foulds N; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK.
  • Wheway G; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
  • Parker MO; School of Pharmacy and Biomedical Sciences, University of Portsmouth, Old St Michael's Building, White Swan Road, Portsmouth PO1 2DT, UK.
  • Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
  • Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
  • Desir J; Département de Génétique Clinique - Institut de Pathologie et de Génétique, Institut de Pathologie et de Génétique, Avenue Georges Lemaître, 25 6041 Gosselies, Belgium.
  • Bayat A; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.
  • Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, 75 Laurier Ave E, Ottawa, ON K1N 6N5, Canada.
  • Guille M; European Xenopus Resource Centre, School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth PO1 2DY, UK.
  • Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark. Electronic address: ask@sund.ku.dk.
  • Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO165YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK. Electronic addre
Am J Hum Genet ; 109(7): 1217-1241, 2022 07 07.
Article en En | MEDLINE | ID: mdl-35675825
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores AMPA / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores AMPA / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos