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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert, Anne; Simons, Annet; Schuurs-Hoeijmakers, Janneke H M; Koenen, Hans J P M; Zonneveld-Huijssoon, Evelien; Henriet, Stefanie S V; Schatorjé, Ellen J H; Hoppenreijs, Esther P A H; Leenders, Erika K S M; Janssen, Etienne J M; Santen, Gijs W E; de Munnik, Sonja A; van Reijmersdal, Simon V; van Rijssen, Esther; Kersten, Simone; Netea, Mihai G; Smeets, Ruben L; van de Veerdonk, Frank L; Hoischen, Alexander; van der Made, Caspar I.
Afiliación
  • Hebert A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • Simons A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • Koenen HJPM; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.
  • Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
  • Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
  • Schatorjé EJH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Hoppenreijs EPAH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Leenders EKSM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • Janssen EJM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands.
  • Santen GWE; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • de Munnik SA; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • van Reijmersdal SV; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • van Rijssen E; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.
  • Kersten S; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.
  • Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
  • Smeets RL; Department for Immunology and Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany.
  • van de Veerdonk FL; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.
  • Hoischen A; Department of Laboratory Medicine, Laboratory for Diagnostics, Radboud University Medical Center, Nijmegen, Netherlands.
  • van der Made CI; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
Elife ; 112022 Oct 17.
Article en En | MEDLINE | ID: mdl-36250618
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinflamatorias Hereditarias / Exoma Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinflamatorias Hereditarias / Exoma Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article