نتائج البحث - "David van Enckevort"

المصدر: IEEE/ACM Transactions on Computational Biology and Bioinformatics, 16(4), 1342-1348. IEEE COMPUTER SOC
IEEE/ACM Transactions on Computational Biology and Bioinformatics

مصطلحات موضوعية: Big Data, Databases, Factual, 020205 medical informatics, Genetic Linkage, Computer science, Big data, Data security, 02 engineering and technology, privacy, Electronic mail, Task (project management), Rare Diseases, 0202 electrical engineering, electronic engineering, information engineering, Genetics, Humans, Confidentiality, Computer Security, Genome, Human, business.industry, Applied Mathematics, Genomics, Data science, United States, Europe, privacy-preserving record linkage, Task analysis, record linkage, Interdisciplinary Communication, 020201 artificial intelligence & image processing, Data matching, Return of results, business, Medical Informatics, Record linkage, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9219b6725c1b35266b4df041d856bd6Test
https://hdl.handle.net/11370/84524972-f57d-4f29-b538-f443f856dfddTest

6

تقرير

Consolidated Registry of BBMRI-ERIC Biobanks

المؤلفون: Petr Holub, David van Enckevort, Robert Reihs, Morris Swertz, Heimo Müller, Araceli DiezFraile, Michael Hummel, Jan-Eric Litton

العلاقة: info:eu-repo/grantAgreement/EC/H2020/676550/; https://zenodo.org/communities/bbmri-ericTest; https://zenodo.org/communities/ecfundedTest; https://zenodo.org/record/273550Test; https://doi.org/10.5281/zenodo.273550Test; oai:zenodo.org:273550

الإتاحة: https://doi.org/10.5281/zenodo.273550Test
https://zenodo.org/record/273550Test

View record in BASE

7

تقرير

Implementation of the BBMRI-ERIC architecture and database

المؤلفون: Diogo Alexandre, Martin Lablans, Frank Ückert, Petr Holub, Michael Hummel, Morris Swertz, Rumyana Proynova, David van Enckevort, Jonathan Jetten

العلاقة: info:eu-repo/grantAgreement/EC/H2020/676550/; https://zenodo.org/communities/bbmri-ericTest; https://zenodo.org/record/273766Test; https://doi.org/10.5281/zenodo.273766Test; oai:zenodo.org:273766

الإتاحة: https://doi.org/10.5281/zenodo.273766Test
https://doi.org/10.5281/zenodo.750852Test
https://zenodo.org/record/273766Test

View record in BASE

8

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

المؤلفون: Annika Jacobsen, Chris T. Evelo, Leopold M. G. Curfs, Mark Wilkinson, Gillian S. Townend, Egon Willighagen, David van Enckevort, Friederike Ehrhart, Marco Roos, Henk J van Kranen

المساهمون: Bioinformatica, RS: MHeNs - R3 - Neuroscience, RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, RS: GROW - R4 - Reproductive and Perinatal Medicine, Institute for Public Health Genomics, RS: FHML MaCSBio, Complexe Genetica, MUMC+: DA KG Polikliniek (9)

المصدر: Human Mutation
Human Mutation, 39(7), 914-924
Human Mutation, 39(7), 914-924. Wiley

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, INTELLECTUAL DISABILITY, Genotype, databases, Methyl-CpG-Binding Protein 2, phenotype, RESOURCES, Interoperability, Rett syndrome, Biology, VARIANTS, computer.software_genre, BIOBANKS, MECP2, 03 medical and health sciences, MUTATION DATABASE, Loss of Function Mutation, Intellectual disability, Databases, Genetic, Genetics, medicine, Genetics (clinical), FAIR data, Database, BIOINFORMATICS, Online database, Findability, HUMANS, GENOMIC VARIATION, medicine.disease, Biobank, HUMAN-DISEASE, 030104 developmental biology, Mutation (genetic algorithm), Mutation, genetic variation, UPDATE, Female, computer

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7cb104923819cf56f4da9fdbbb000bTest
https://doi.org/10.1002/humu.23542Test

9

Recommendations for Improving the Quality of Rare Disease Registries

المساهمون: Unión Europea

المصدر: International Journal of Environmental Research and Public Health, 15(8)
International Journal of Environmental Research and Public Health
Repisalud
Instituto de Salud Carlos III (ISCIII)
International Journal of Environmental Research and Public Health, Vol 15, Iss 8, p 1644 (2018)

مصطلحات موضوعية: 0301 basic medicine, Knowledge management, Biomedical Research, Health, Toxicology and Mutagenesis, lcsh:Medicine, Information Storage and Retrieval, Review, 030105 genetics & heredity, Health administration, Continuous assessment, 03 medical and health sciences, Arbetsmedicin och miljömedicin, 0302 clinical medicine, Documentation, patient registry, Health care, Information system, Humans, 030212 general & internal medicine, Registries, business.industry, lcsh:R, Public Health, Environmental and Occupational Health, Computational Biology, rare diseases, Occupational Health and Environmental Health, Biobank, Quality Improvement, 3. Good health, Data Accuracy, Europe, Quality audit, quality, Data quality, HEALTH-CARE, Business, COLLECTION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ade81687afb2be56949118ac12a5edcTest
http://hdl.handle.net/1887/86526Test

10

OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases

المؤلفون: Jannik, Schaaf, Dennis, Kadioglu, Jens, Goebel, Christian-Alexander, Behrendt, Marco, Roos, David, van Enckevort, Frank, Ückert, Fatlume, Sadiku, Thomas O F, Wagner, Holger, Storf

المصدر: Studies in health technology and informatics. 253

مصطلحات موضوعية: Metadata, Rare Diseases, Research, Statistics as Topic, Humans, Registries, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f795c13f12b15cb96b847fb8e181795aTest
https://pubmed.ncbi.nlm.nih.gov/30147075Test

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