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Derniers dépôts
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Godelieve Morel, Celine Duhamel, Simon Boussion, Frederic Frenois, Gaetan Lesca, et al.. Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability. Human Mutation, 2020, Human mutation, 41 (9), pp.1499-1506. ⟨10.1002/humu.24070⟩. ⟨hal-03405413⟩
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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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