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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta, Luca; Norberg, Anna; Taskinen, Mervi; Béziat, Vivien; Degerman, Sofie; Wartiovaara-Kautto, Ulla; Välimaa, Hannamari; Jahnukainen, Kirsi; Casanova, Jean-Laurent; Seppänen, Mikko; Saarela, Janna; Koskenvuo, Minna; Martelius, Timi.
Afiliación
  • Trotta L; Institute for Molecular Medicine Finland FIMM, HiLIFE, University of Helsinki, P.O.BOX 281, FI-0029, Helsinki, Finland.
  • Norberg A; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Building 6M, SE-901 87, Umeå, Sweden.
  • Taskinen M; Division of Hematology-Oncology and Stem Cell Transplantation, Children's Hospital, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4, PL 372, 00029 HUS, Helsinki, Finland.
  • Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Degerman S; Paris Descartes University, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, EU, France.
  • Wartiovaara-Kautto U; Department of Medical Biosciences, Pathology, Umeå University, NUS, Dept of Medical Biosciences M21, 901 85, Umeå, Sweden.
  • Välimaa H; Department of Haematology, Helsinki University Hospital Comprehensive Cancer Center and University of Helsinki, Helsinki, Finland.
  • Jahnukainen K; Faculty of Medicine Department of Virology and Department of Oral and Maxillofacial Surgery, University of Helsinki and Helsinki University Hospital, POB 21, 00014, Helsinki, Finland.
  • Casanova JL; Division of Hematology-Oncology and Stem Cell Transplantation, Children's Hospital, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4, PL 372, 00029 HUS, Helsinki, Finland.
  • Seppänen M; Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden.
  • Saarela J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Koskenvuo M; Paris Descartes University, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, EU, France.
  • Martelius T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065, USA.
Orphanet J Rare Dis ; 13(1): 139, 2018 08 17.
Article en En | MEDLINE | ID: mdl-30115091
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma Tipo de estudio: Diagnostic_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma Tipo de estudio: Diagnostic_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article