Presentation
Resources & publications
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2019Journal (source)J. Invest. Dermatol.A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.
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2019Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
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2019Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
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2019Journal (source)J. Invest. Dermatol.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
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2019Journal (source)Mol Ther Nucleic Acids
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Usin...
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2019Journal (source)Sci Transl Med
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dyst...
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2019Journal (source)J. Invest. Dermatol.
Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Reces...
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2018Journal (source)J. Am. Acad. Dermatol.
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase ...
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2017Journal (source)J. Invest. Dermatol.
Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7)...
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2017Journal (source)J. Invest. Dermatol.
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fi...
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2017Journal (source)J. Invest. Dermatol.
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bull...
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2016Journal (source)PLoS Genet.
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.
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2014Journal (source)J. Exp. Med.
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks...
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2021Journal (source)J Allergy Clin Immunol
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a...
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2020Journal (source)Expert Opin Emerg Drugs
Emerging drugs for the treatment of epidermolysis bullosa.
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2021Journal (source)J Invest Dermatol
Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermo...