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Results 1 - 8 of 8 for Clinical specificity
  1. Schindler disease 
    ... changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1): ...
    https://medlineplus.gov/genetics/condition/schindler-disease - Genetics
  2. NAGA gene 
    ... changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1): ...
    https://medlineplus.gov/genetics/gene/naga - Genetics
  3. CYP27A1 gene 
    ... Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, ... On the substrate specificity of human CYP27A1: implications for bile acid and ...
    https://medlineplus.gov/genetics/gene/cyp27a1 - Genetics
  4. MAP2K2 gene 
    ... cardiofaciocutaneous syndrome. More About This Health Condition dual specificity mitogen-activated protein kinase kinase 2 ERK activator ... Kato K, Kure S, Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
  5. Behçet disease 
    ... study of 27 countries on the sensitivity and specificity of the new criteria. J Eur Acad Dermatol ... B51 or B5 genotype with Behcet's disease clinical characteristics: systematic review and meta-analyses of observational ...
    https://medlineplus.gov/genetics/condition/behcet-disease - Genetics
  6. DNAI1 gene 
    ... K, Przystalowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ...
    https://medlineplus.gov/genetics/gene/dnai1 - Genetics
  7. Robinow syndrome 
    ... novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2015;87( ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  8. Age-related macular degeneration 
    ... DA, Iannaccone A, Edwards JG. Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related ... Ratnapriya R, Chew EY. Age-related macular degeneration-clinical review and genetics update. Clin Genet. 2013 Aug; ...
    https://medlineplus.gov/.../age-related-macular-degeneration - Genetics