Delfien Syx

8PUBLICATIONS
57CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical genetics (excl. cancer genetics)Infant and child healthMedical infection agents (incl. prions)Composite and hybrid materials
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Publications (8)

|Sep 02, 2022
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.

Marlies Colman, Robin Vroman, Tibbe Dhooge

|Jul 15, 2021
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.

Marlies Colman, Delfien Syx, Inge De Wandele

|Mar 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Tibbe Dhooge, Tim Van Damme, Delfien Syx

|Feb 01, 2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.

Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer

|Dec 01, 2019
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Juan Li, Marco Ritelli, Cindy S Ma

|Jul 06, 2019
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.

Sarah Delbaere, Tibbe Dhooge, Delfien Syx

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Frequent Collaborators

4 joint publications

Sofie Symoens

3 joint publications

Tim Van Damme

3 joint publications

Fransiska Malfait

3 joint publications

Tibbe Dhooge