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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
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Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
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Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls
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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
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Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
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Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type
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The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
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The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3