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authFullName_s : Luitgard Graul-Neumann

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Nina Dupuis , Sophie Lebon , Manoj Kumar , Séverine Drunat , Luitgard Graul-Neumann et al.
Human 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 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
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Novel mosaic variants in two patients with Cornelia de Lange syndrome

Jelena Pozojevic , Ilaria Parenti , Luitgard Graul-Neumann , Sara Ruiz Gil , Erwan Watrin et al.
European Journal of Medical Genetics, 2018, 61 (11), pp.680-684. ⟨10.1016/j.ejmg.2017.11.004⟩
Journal articles hal-01812513v1