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0000-0002-3456-8871
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Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia
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The Ehlers-Danlos syndromes
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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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Unexplored clinical and molecular consequences of the Ehlers-Danlos syndromes
(2023) -
- 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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Identifying a pain signature in classical Ehlers-Danlos Syndrome : preliminary results from questionnaires and experimental pain testing
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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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- Journal Article
- A1
- open access
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
- Journal Article
- A1
- open access
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study