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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Publikation: AndetAndet bidragFormidling

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer 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.

OriginalsprogEngelsk
Publikationsdatojan. 2021
Udgave1
Vol/bind23
Antal sider1
DOI
StatusUdgivet - jan. 2021
NavnGenetics in medicine : official journal of the American College of Medical Genetics
ISSN1098-3600
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ID: 61245580