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Derniers dépôts
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Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, et al.. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder. Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.121. ⟨10.1186/s13023-019-1094-5⟩. ⟨hal-04892404⟩
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Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, et al.. Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Human Mutation, 2021, 42 (11), pp.1488-1502. ⟨10.1002/humu.24276⟩. ⟨hal-04808367⟩
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