Browsing Fakülteler / Faculties by Subject "MUTATIONS"
Now showing items 1-3 of 3
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Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children
(2017)We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome in children with primary steroid-resistant nephrotic syndrome. From the PodoNet Registry, ... -
The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
(2015)Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and ... -
Single-Nucleotide Polymorphisms on the RYD5 Gene in Nasal Polyposis
(2015)Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ...