Högskolan i Skövde

his.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Variable skeletal phenotypes associated with biallelic variants in PRKG2
NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK.ORCID iD: 0000-0001-7334-0602
NGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.ORCID iD: 0000-0003-1364-7586
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK.
Show others and affiliations
2022 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 59, no 10, p. 947-950Article in journal (Refereed) Published
Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2022. Vol. 59, no 10, p. 947-950
Keywords [en]
Genetics (clinical), Genetics
National Category
Medical Genetics
Research subject
Translational Medicine TRIM
Identifiers
URN: urn:nbn:se:his:diva-20732DOI: 10.1136/jmedgenet-2021-108027ISI: 000839164900001PubMedID: 34782440Scopus ID: 2-s2.0-85139374485OAI: oai:DiVA.org:his-20732DiVA, id: diva2:1615652
Funder
Wellcome trust, 203141/Z/16/ZEU, FP7, Seventh Framework Programme, 608473
Note

CC BY 4.0

Published Online First: 15 November 2021

Brief communication

The Genomics England Research Consortium

Correspondence to Dr Deborah Shears; debbie.shears@ouh.nhs.uk Dr Jenny C Taylor; jenny@well.ox.ac.uk

Available from: 2021-11-30 Created: 2021-11-30 Last updated: 2022-10-18Bibliographically approved

Open Access in DiVA

fulltext(1898 kB)107 downloads
File information
File name FULLTEXT02.pdfFile size 1898 kBChecksum SHA-512
5b08ac84bdec82ba9d8bb78806ac54716d322b031b8fa85461233f22479bba513b6aaf3b81e88ef611901a7fa57d003c8c4545da4210752ba3437a46fbfb09e5
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMedScopus

Authority records

Ejeskär, KatarinaTajsharghi, Homa

Search in DiVA

By author/editor
Pagnamenta, Alistair T.Diaz-Gonzalez, FranciscaEjeskär, KatarinaHeath, Karen E.Tajsharghi, Homa
By organisation
School of Health SciencesDigital Health Research (DHEAR)
In the same journal
Journal of Medical Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 166 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 188 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf