Sofie Symoens
0000-0003-4240-2772
4 papers found
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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
Tissue-specific mosaicism for a lethal osteogenesis imperfectaCOL1A1mutation causes mild OI/EDS overlap syndrome
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