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Negative molecular diagnostics in non-syndromic hearing loss : what next?
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Hearing loss in stickler syndrome : an update
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The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism
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Expanding the phenotype of B3GALNT2-related disorders
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Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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The sex-specific splicing of doublesex in brine shrimp Artemia franciscana
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SLC25A12 missense variant in Nova Scotia Duck Tolling Retrievers affected by cerebellar degeneration-myositis complex (CDMC)
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Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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Nature and nurture : genotype-dependent differential responses of root architecture to agar and soil environments
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A reassessment of copy number variations in congenital heart defects : picturing the whole genome