Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
- DOI
- 10.1186/s13023-017-0699-9
- Published
- 2017-09-06
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.1186/s13023-017-0699-9,
title = {Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy},
author = {Elizabeth Harris and Ana Topf and Rita Barresi and Judith Hudson and Helen Powell and James Tellez and Debbie Hicks and Anna Porter and Marta Bertoli and Teresinha Evangelista and Chiara Marini-Betollo and Ólafur Magnússon and Monkol Lek and Daniel MacArthur and Kate Bushby and Hanns Lochmüller and Volker Straub},
year = {2017},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-017-0699-9},
url = {https://doi.org/10.1186/s13023-017-0699-9}
}RIS
TY - JOUR TI - Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy AU - Elizabeth Harris AU - Ana Topf AU - Rita Barresi AU - Judith Hudson AU - Helen Powell AU - James Tellez AU - Debbie Hicks AU - Anna Porter AU - Marta Bertoli AU - Teresinha Evangelista AU - Chiara Marini-Betollo AU - Ólafur Magnússon AU - Monkol Lek AU - Daniel MacArthur AU - Kate Bushby AU - Hanns Lochmüller AU - Volker Straub PY - 2017 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-017-0699-9 UR - https://doi.org/10.1186/s13023-017-0699-9 ER -
APA
Harris, E., Topf, A., Barresi, R., Hudson, J., Powell, H., Tellez, J., Hicks, D., Porter, A., Bertoli, M., Evangelista, T., Marini-Betollo, C., Magnússon, Ó., Lek, M., MacArthur, D., Bushby, K., Lochmüller, H., & Straub, V. (2017). Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-017-0699-9
Source records
- crossref · retrieved 2026-09-26T12:07:40.797Z