Concepedia
Statistics
Publications
2
Citations
249
H-Index
Active since
2012
Affiliations
Sorbonne Paris Cité(Current)
Université Paris Cité
Inserm
Hôpital Roger Salengro
Délégation Paris 5
Sabine Defoort-Delhemmes is an author at Sorbonne Paris Cité specializing in medical genetics, ocular genetics, and genetics.
Publications per year
2012–2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi et al. · Nature Genetics · 2012 · 147 citations
Medicine, Genetics, Ophthalmology +16
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
Xavier Gérard, Isabelle Perrault, Sylvain Hanein et al. · Molecular Therapy — Nucleic Acids · 2012 · 102 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
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