Browsing by Subject "differential diagnosis"
Now showing items 1-6 of 6
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Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual
(1996)During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have ...
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A family with the branchio-oto-renal syndrome: Clinical and genetic correlations
(2002)Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
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Integrated electronic health record database management system: A proposal
(2015)eHealth has attained significant importance as a new mechanism for health management and medical practice. However, the technological growth of eHealth is still limited by technical expertise needed to develop appropriate ...
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New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney
(2014)Background: Upper tract urothelial carcinomas (UT-UC) can invade the pelvicalyceal system making differential diagnosis of the various histologically distinct renal cell carcinoma (RCC) subtypes and UT-UC, difficult. Correct ...
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Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease?
(2009)