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Analysis of matrisome expression patterns in murine and human dorsal root ganglia
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
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Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
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A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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- Conference Paper
- C3
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A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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- Journal Article
- A1
- open access
Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential