prof. dr. Fransiska Malfait
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The Ehlers-Danlos syndrome
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Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
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C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses
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Ehlers-Danlos Syndrome
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Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer
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Compound heterozygous mutations of the TNXB gene cause primary myopathy
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- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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Sequence alterations in the carboxyl-terminal propeptide domain
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Disorders of connective tissue and extracellular matrix