Found: 16
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Highlights from the tenth ISCB Student Council Symposium 2014.
- Published in:
- BMC Bioinformatics, 2015, v. 16, p. A1, doi. 10.1186/1471-2105-16-S2-A1
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- Publication type:
- Article
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-020-00794-7
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- Publication type:
- Article
A framework for exhaustive modelling of genetic interaction patterns using Petri nets.
- Published in:
- Bioinformatics, 2020, v. 36, n. 7, p. 2142, doi. 10.1093/bioinformatics/btz917
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- Publication type:
- Article
Book Reviews.
- Published in:
- 2005
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- Publication type:
- Book Review
A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR.
- Published in:
- Data Science Journal, 2023, v. 22, p. 1, doi. 10.5334/dsj-2023-012
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- Publication type:
- Article
The use of foundational ontologies in biomedical research.
- Published in:
- Journal of Biomedical Semantics, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13326-023-00300-z
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- Publication type:
- Article
Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.
- Published in:
- Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00263-7
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- Publication type:
- Article
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
- Published in:
- Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00264-6
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- Publication type:
- Article
BioASF: a framework for automatically generating executable pathway models specified in BioPAX.
- Published in:
- Bioinformatics, 2016, v. 32, n. 12, p. i60, doi. 10.1093/bioinformatics/btw250
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- Publication type:
- Article
Recommendations for Improving the Quality of Rare Disease Registries.
- Published in:
- International Journal of Environmental Research & Public Health, 2018, v. 15, n. 8, p. 1644, doi. 10.3390/ijerph15081644
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- Publication type:
- Article
The ability of transcription factors to differentially regulate gene expression is a crucial component of the mechanism underlying inversion, a frequently observed genetic interaction pattern.
- Published in:
- PLoS Computational Biology, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pcbi.1007061
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- Publication type:
- Article
The Salmonella enterica Pan-genome.
- Published in:
- Microbial Ecology, 2011, v. 62, n. 3, p. 487, doi. 10.1007/s00248-011-9880-1
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- Publication type:
- Article
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 914, doi. 10.1002/humu.23542
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- Publication type:
- Article
Construction and Experimental Validation of a Petri Net Model of Wnt/β-Catenin Signaling.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155743
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- Publication type:
- Article
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02558-5
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- Publication type:
- Article
The de novo FAIRification process of a registry for vascular anomalies.
- Published in:
- 2021
- By:
- Publication type:
- journal article