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Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients
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Stickler syndrome: comprehensive clinical and molecular analysis
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Cephalometrics in Stickler syndrome : objectification of the typical facial appearance
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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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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Hearing impairment in Stickler syndrome: a systematic review
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- Journal Article
- A1
- open access
Hearing impairment in Stickler syndrome: a systematic review