prof. dr. Fransiska Malfait
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- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
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- Journal Article
- A1
- open access
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
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Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
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The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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The genetics of soft connective tissue disorders
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Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
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Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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Postaxial polydactyly type A in a patient with Ellis-van Creveld syndrome: additional value of MR imaging
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Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
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Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists
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A rare case of polycarpyly in a patient with Ellis-van Creveld syndrome: plain film findings and additional value of MRI
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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A zebrafish model for Bruck syndrome caused by PLOD2 mutations