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Structure : Identifiant HAL de la structure : 200731
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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1 H NMR spectroscopy and genetic testing

Nadia Bouchemal , Lisa Ouss , Anaïs Brassier , Valérie Barbier , Stéphanie Gobin et al.
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1174-6⟩
Article dans une revue hal-02409445v1
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Semantic interoperability challenges to process large amount of data perspectives in forensic and legal medicine

Marie-Christine Jaulent , Damien Leprovost , Jean Charlet , Remy Choquet
Journal of Forensic and Legal Medicine, 2016, ⟨10.1016/j.jflm.2016.10.002⟩
Article dans une revue hal-01431816v1
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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Alain Calender , Pierre Antoine Rollat Farnier , Adrien Buisson , Stéphane Pinson , Abderrazzaq Bentaher et al.
BMC Medical Genomics, 2018, 11 (1), pp.23. ⟨10.1186/s12920-018-0338-x⟩
Article dans une revue inserm-01728520v1
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Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

Geneviève Baujat , Rémy Choquet , Stéphane Bouée , Viviane Jeanbat , Laurène Courouve et al.
Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.123. ⟨10.1186/s13023-017-0674-5⟩
Article dans une revue inserm-01552312v1