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Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Leung, Marco L; Woodhull, Whitney; Uggenti, Carolina; Schord, Shauna; Mato, Raul Perez; Rodriguez, Diana P; Ream, Margie; Crow, Yanick J; Mori, Mari.
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  • Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Departments of Pathology, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: marco.leung@nationwidechildrens.org.
  • Woodhull W; Division of Pediatric Neurology, Renown Children's Hospital, Reno, NV, USA; University of Nevada, Reno School of Medicine, Reno, NV, USA.
  • Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.
  • Schord S; Division of Hospital Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
  • Mato RP; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.
  • Rodriguez DP; Department of Radiology, Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA.
  • Ream M; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Pediatric Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
  • Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France.
  • Mori M; The Ohio State University College of Medicine, Columbus, OH, 43210, USA; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: mari.mori@nationwidechildrens.org.
Eur J Med Genet ; 66(4): 104731, 2023 Apr.
Article en En | MEDLINE | ID: mdl-36775013
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes del Sistema Nervioso / Malformaciones del Sistema Nervioso Tipo de estudio: Screening_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes del Sistema Nervioso / Malformaciones del Sistema Nervioso Tipo de estudio: Screening_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Países Bajos