Yayıncı "Springer" Çocuk Sağlığı Enstitüsü için listeleme

Toplam kayıt 2, listelenen: 1-2

    • Discovery of Biomarkers In Rare Diseases: Innovative Approaches By Predictive and Personalized Medicine 

      Gülbakan, Basri; Özgül, Rıza Köksal; Yüzbaşıoğlu, Ayşe; Kohl, Matthias; Deigner, Hans-Peter; Özgüç, Meral (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 

      Taşkesen, Mustafa; Collin, Gayle B.; Evsikov, Alexei V.; Güzel, Ayşegül; Özgül, Rıza Köksal; Marshall, Jan D.; Naggert, Juergen K. (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 ...