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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne, Amanda J; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patiroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet.
Afiliación
  • Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK a.walne@qmul.ac.uk.
  • Collopy L; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
  • Cardoso S; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
  • Ellison A; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
  • Plagnol V; University College London Genetics Institute, UK.
  • Albayrak C; Department of Pediatric Hematology, Ondokuz Mayis University, Samsun, Turkey.
  • Albayrak D; Department of Pediatric Hematology, Ondokuz Mayis University, Samsun, Turkey.
  • Kilic SS; Department of Pediatric Immunology Uludag University, Bursa, Turkey.
  • Patiroglu T; Department of Pediatric Immunology Erciyes University Medical Facility, Kayseri, Turkey.
  • Akar H; Department of Pediatric Immunology Erciyes University Medical Facility, Kayseri, Turkey.
  • Godfrey K; Department of Pediatric Dermatology and NIHR Southampton Biomedical Research Center, University Hospital, Southampton and University of Southampton, UK.
  • Carter T; Department of Oncology and Haematology, Princess Margaret Hospital, Perth, WA, Australia.
  • Marafie M; Clinical Cancer and Community Genetics, Kuwait Medical Genetics Center, Al-Sabah Medical area, Kuwait.
  • Vora A; Department of Haematology, Sheffield Children's NHS foundation Trust, Sheffield, UK.
  • Sundin M; Section of Pediatric Hematology/Immunology/SCT, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden Division of Pediatrics, CLINTEC, Karolinska Institutet, Stockholm, Sweden.
  • Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
  • Tummala H; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
  • Dokal I; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
Haematologica ; 101(10): 1180-1189, 2016 10.
Article en En | MEDLINE | ID: mdl-27612988
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Disqueratosis Congénita / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Haematologica Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Disqueratosis Congénita / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Haematologica Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido