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Stickler syndrome: comprehensive clinical and molecular analysis
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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- Journal Article
- A1
- open access
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
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- Conference Paper
- C3
- open access
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
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Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta