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Understanding human linkeropathies: generation of knock-in models to study of the consequences of defective proteoglycan biosynthesis
(2025) -
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
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Understanding human linkeropathies: study of the phenotypic and molecular consequences of defective biosynthesis of the glycosaminoglycan tetrasaccharide linker region
(2024) -
- Miscellaneous
- open access
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
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- Journal Article
- A1
- open access
Sensory profiling in classical Ehlers-Danlos syndrome : a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
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- Journal Article
- A1
- open access
Analysis of matrisome expression patterns in murine and human dorsal root ganglia
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- Miscellaneous
- open access
Sensory profiling in classical Ehlers-Danlos syndrome : a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
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- Journal Article
- A1
- open access
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Matrisome expression in the dorsal root ganglion