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Search: onr:"swepub:oai:prod.swepub.kib.ki.se:132983542" > De Novo Loss-of-Fun...

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  • Reijnders, MRF (author)

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • Elsevier BV,2016

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:132983542
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:132983542URI
  • https://doi.org/10.1016/j.ajhg.2015.12.015DOI

Supplementary language notes

  • Language:English

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Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Added entries (persons, corporate bodies, meetings, titles ...)

  • Zachariadis, VKarolinska Institutet (author)
  • Latour, B (author)
  • Jolly, L (author)
  • Mancini, GM (author)
  • Pfundt, R (author)
  • Wu, KM (author)
  • van Ravenswaaij-Arts, CMA (author)
  • Veenstra-Knol, HE (author)
  • Anderlid, BMM (author)
  • Wood, SA (author)
  • Cheung, SW (author)
  • Barnicoat, A (author)
  • Probst, F (author)
  • Magoulas, P (author)
  • Brooks, AS (author)
  • Malmgren, HKarolinska Institutet (author)
  • Harila-Saari, AKarolinska Institutet (author)
  • Marcelis, CM (author)
  • Vreeburg, M (author)
  • Hobson, E (author)
  • Sutton, VR (author)
  • Stark, Z (author)
  • Vogt, J (author)
  • Cooper, N (author)
  • Lim, JY (author)
  • Price, S (author)
  • Lai, AHM (author)
  • Domingo, D (author)
  • Reversade, B (author)
  • Gecz, J (author)
  • Gilissen, C (author)
  • Brunner, HG (author)
  • Kini, U (author)
  • Roepman, R (author)
  • Nordgren, AKarolinska Institutet (author)
  • Kleefstra, T (author)
  • Karolinska Institutet (creator_code:org_t)

Related titles

  • In:American journal of human genetics: Elsevier BV98:2, s. 373-3811537-66050002-9297

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