Browsing Çocuk Sağlığı Enstitüsü Makale Koleksiyonu by Publisher "Springer"
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Discovery of Biomarkers In Rare Diseases: Innovative Approaches By Predictive and Personalized Medicine
(Springer, 2016)There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ... -
Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...