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authFullName_s : Angelo Selicorni
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Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Luitgard Graul-Neumann , Jacopo Azzollini et al.
Clinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩
Journal articles hal-01117251v1

Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction

Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Kerstin S. Wendt , Erwan Watrin et al.
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Journal articles istex hal-01255865v1

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Mathilde Lefebvre , Anne Dieux-Coeslier , Geneviève Baujat , Elise Schaefer , Saint-Onge Judith et al.
Journal of Medical Genetics, 2018, 55 (6), pp.422-429. ⟨10.1136/jmedgenet-2017-104939⟩
Journal articles hal-02012240v1