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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Anne HebertAnnet SimonsJanneke H M Schuurs-HoeijmakersHans J P M KoenenEvelien Zonneveld-HuijssoonStefanie S V HenrietEllen J H SchatorjéEsther P A H HoppenreijsErika K S M LeendersEtienne J M JanssenGijs W E SantenSonja A de MunnikSimon V van ReijmersdalEsther van RijssenSimone KerstenMihai M NeteaRuben L SmeetsFrank L van de VeerdonkAlexander HoischenCaspar I van der Made
Published in: eLife (2022)
This research was supported by grants from the European Union, ZonMW and the Radboud Institute for Molecular Life Sciences.
Keyphrases
  • late onset
  • patient safety
  • amyotrophic lateral sclerosis
  • adverse drug
  • single molecule