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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, Dalila; Berman, Jason N; Scherer, Stephen W; Virtanen, Anders; Dror, Yigal.
Afiliación
  • Dhanraj S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • Gunja SM; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Deveau AP; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Nissbeck M; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Boonyawat B; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Coombs AJ; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Renieri A; Department of Medical Genetics, University of Siena, Siena, Italy.
  • Mucciolo M; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.
  • Marozza A; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.
  • Buoni S; Neuropsichiatria Infantile, Azienda Ospedaliera, Universitaria Senese, Siena, Italy.
  • Turner L; Department of Discipline of Genetics, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
  • Li H; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Jarrar A; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Sabanayagam M; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kirby M; Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Shago M; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pinto D; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Mount Sinai School of Medicine, New York, New Yo
  • Berman JN; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Scherer SW; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Virtanen A; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Dror Y; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet ; 52(11): 738-48, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26342108
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades de la Médula Ósea / Discapacidades del Desarrollo / Eliminación de Secuencia / Mutación Missense / Exorribonucleasas Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades de la Médula Ósea / Discapacidades del Desarrollo / Eliminación de Secuencia / Mutación Missense / Exorribonucleasas Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Canadá