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Derniers dépôts
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Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, et al.. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩. ⟨hal-02064139⟩
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Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw-Hautier, et al.. Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. Orphanet Journal of Rare Diseases, 2017, 12 (1), pp.119. ⟨10.1186/s13023-017-0666-5⟩. ⟨hal-01577342⟩
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Quentin Thomas, Gauthier Duloquin, Sophie Mohr, Guy-Victor Osseby, Maurice Giroud, et al.. Superficial Siderosis of the Central Nervous System associated with Hemophilia A: A case report. Interdisciplinary Neurosurgery - Advanced techniques and case management, 2021, 23, pp.100912 -. ⟨10.1016/j.inat.2020.100912⟩. ⟨hal-03491323⟩