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Derniers dépôts
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Nicolas Dupré, Florian Gueniot, Valérie Domenga-Denier, Virginie Dubosclard, Christelle Nilles, et al.. Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL Authors. The Journal of clinical investigation, 2024, ⟨10.1172/JCI175789⟩. ⟨inserm-04504015⟩
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Ségolène Prades, Sarah-Lyne Jos, Jacqueline Saïas-Magnan, Louis Bujan, Florence Eustache, et al.. Efficient pathway for men fertility preservation in testicular cancer or lymphoma: a cross-sectional study of national 2018 data. Basic and clinical andrology, 2023, 33 (1), pp.35. ⟨10.1186/s12610-023-00209-8⟩. ⟨hal-04447604⟩
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Mathilde Renaud, Maria-Ceu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, et al.. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology, 2018, 75 (4), pp.495. ⟨10.1001/jamaneurol.2017.4373⟩. ⟨hal-02438841⟩
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Maria W. A. Teunissen, Elly Lewerissa, Eline J. H. van Hugte, Shan Wang, Charlotte W. Ockeloen, et al.. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human Molecular Genetics, 2023, 32 (14), pp.2373-2385. ⟨10.1093/hmg/ddad081⟩. ⟨hal-04456350⟩
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