Sabine Defoort Delhemmes
AuthID: R-00F-EPM
1
TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Full Text
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
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TITLE: Antisense Oligonucleotide-Mediated Exon Skipping Restores Primary Cilia Assembly in Fibroblasts Harbouring the Common Leber Congenital Amaurosis CEP290 Mutation
AUTHORS: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLISHED: 2012, SOURCE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
AUTHORS: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLISHED: 2012, SOURCE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
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