Publications en collaboration avec des chercheurs de University Medical Center Freiburg (7)

2024

  1. 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

  1. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Brain, Vol. 142, Núm. 10, pp. 2948-2964

2018

  1. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

    Brain, Vol. 141, Núm. 2, pp. 391-408

2017

  1. Analysis and visualization of disease courses in a semantically-enabled cancer registry

    Journal of Biomedical Semantics, Vol. 8, Núm. 1

2014

  1. Ontology content patterns as bridge for the semantic representation of clinical information

    Applied Clinical Informatics, Vol. 5, Núm. 3, pp. 660-669

2013

  1. 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)

  2. Ontology-based reinterpretation of the SNOMED CT context model

    CEUR Workshop Proceedings