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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Research output: Other contributionCommunication

  1. Deciphering the premature mortality in PIGA-CDG - An untold story

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Lessons learned from 40 novel PIGA patients and a review of the literature

    Research output: Contribution to journalReviewResearchpeer-review

  4. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Eliane Beauregard-Lacroix
  • Guillermo Pacheco-Cuellar
  • Norbert F Ajeawung
  • Jessica Tardif
  • Klaus Dieterich
  • Tabib Dabir
  • Dina Vind-Kezunovic
  • Susan M White
  • Denes Zadori
  • Claudia Castiglioni
  • Lisbeth Tranebjærg
  • Pernille Mathiesen Tørring
  • Ed Blair
  • Marzena Wisniewska
  • Maria Vittoria Camurri
  • Yolande van Bever
  • Sirinart Molidperee
  • Juliet Taylor
  • Alexandre Dionne-Laporte
  • Sanjay M Sisodiya
  • Raoul C M Hennekam
  • Philippe M Campeau
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An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Original languageEnglish
Publication dateJan 2021
Edition1
Volume23
Number of pages1
DOIs
Publication statusPublished - Jan 2021
SeriesGenetics in medicine : official journal of the American College of Medical Genetics
ISSN1098-3600
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ID: 61245580