Author

D. Ente

Observed names: D Ente, Dorothée Ente

Institutions: Assistance Publique – Hôpitaux de Paris, Hôpital Albert-Chenevier

Observed institutions: Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Centre Hospitalier Universitaire Ibn Rochd, Hôpital Albert-Chenevier, Université Pierre-et-Marie-Curie, Physiopathologie des Comportements

OpenAlex ID: A5085353920

Review and update of mutations causing Waardenburg syndrome

2010 · Véronique Pingault, Dorothée Ente, et al. · Human Mutation · 600

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

2003 · H Azzedine, M Ruberg, et al. · Neuromuscular Disorders · 64

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families

2006 · A. Bouhouche, N. Birouk, et al. · Brain · 34

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

2010 · N.M. Haddad, D. Ente, et al. · Molecular Syndromology · 25

Works count: 4

Citation count: 723

H-index: 4

I10-index: 4