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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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Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk predictionClinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Journal articles
istex
hal-01255865v1
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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsJournal of Medical Genetics, 2018, 55 (6), pp.422-429. ⟨10.1136/jmedgenet-2017-104939⟩
Journal articles
hal-02012240v1
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