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A Novel RAB33B Mutation in Smith-McCort DysplasiaHuman Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩
Journal articles
hal-02342666v1
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Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotypeClinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩
Journal articles
hal-01117251v1
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Novel mosaic variants in two patients with Cornelia de Lange syndromeEuropean Journal of Medical Genetics, 2018, 61 (11), pp.680-684. ⟨10.1016/j.ejmg.2017.11.004⟩
Journal articles
hal-01812513v1
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