Presentation
Scientific Publications
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2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promo..., Eur J Hum Genet
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2024
Splice modulation strategy applied to deep intronic variants in causing rece..., Proc Natl Acad Sci U S A
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2021
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phe..., J Eur Acad Dermatol Venereol
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2019
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv..., Br J Dermatol
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2018
Correction to: Antisense-Mediated Splice Modulation to Reframe Transcripts., Methods Mol Biol
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2018
Antisense-Mediated Splice Modulation to Reframe Transcripts., Methods Mol Biol
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2016
Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bul..., Br J Dermatol
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2012
Antisense-mediated exon skipping to reframe transcripts., Methods Mol Biol
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2011
A new case of keratin 14 functional knockout causes severe recessive EBS and ..., J Invest Dermatol