Yazar "Hancili, Suna" için listeleme
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Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
Guven, Ayla; Al-Rijjal, Roua A.; BinEssa, Huda A.; Dogan, Durmus; Kor, Yilmaz; Zou, Minjing; Kaya, Namik; Alenezi, Anwar F.; Hancili, Suna; Tarim, Omer; Baitei, Essa Y.; Kattan, Walaa E.; Meyer, Brian F.; Shi, Yufei (WILEY, 2017)ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects ... -
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome
Hancili, Suna; Bonnefond, Amelie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean-Jacques; Polak, Michel; Froguel, Philippe; Guven, Ayla; Vaxillaire, Martine (WILEY, 2018)Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable ...
