Facultad de Informática
Centro académico
University Medical Center Freiburg
Friburgo de Brisgovia, AlemaniaPublicacións en colaboración con investigadores/as de University Medical Center Freiburg (7)
2024
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Nature communications, Vol. 15, Núm. 1, pp. 2269
2019
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Brain, Vol. 142, Núm. 10, pp. 2948-2964
2018
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Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
Brain, Vol. 141, Núm. 2, pp. 391-408
2017
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Analysis and visualization of disease courses in a semantically-enabled cancer registry
Journal of Biomedical Semantics, Vol. 8, Núm. 1
2014
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Ontology content patterns as bridge for the semantic representation of clinical information
Applied Clinical Informatics, Vol. 5, Núm. 3, pp. 660-669
2013
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Ontology-based reengineering of the SNOMED CT context model
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
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Ontology-based reinterpretation of the SNOMED CT context model
CEUR Workshop Proceedings