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List of works by Delfien Syx

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

scientific article published on 14 January 2016

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

scientific article published on 05 July 2019

The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

scientific article published on 06 February 2019

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