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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

  • Anna Hammarsjö*
  • , Maria Pettersson
  • , David Chitayat
  • , Atsuhiko Handa
  • , Britt Marie Anderlid
  • , Marco Bartocci
  • , Donald Basel
  • , Dominyka Batkovskyte
  • , Ana Beleza-Meireles
  • , Peter Conner
  • , Jesper Eisfeldt
  • , Katta M. Girisha
  • , Brian Hon Yin Chung
  • , Eva Horemuzova
  • , Hironobu Hyodo
  • , Liene Korņejeva
  • , Kristina Lagerstedt-Robinson
  • , Angela E. Lin
  • , Måns Magnusson
  • , Shahida Moosa
    • Shalini S. Nayak, Daniel Nilsson, Hirofumi Ohashi, Naoko Ohashi-Fukuda, Henrik Stranneheim, Fulya Taylan, Rasa Traberg, Ulrika Voss, Valtteri Wirta, Ann Nordgren, Gen Nishimura, Anna Lindstrand, Giedre Grigelioniene
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

33   Link opens in a new tab Citations (Scopus)

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